PD
MCID: PRK057
MIFTS: 77

Parkinson Disease, Late-Onset (PD)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Parkinson Disease, Late-Onset

MalaCards integrated aliases for Parkinson Disease, Late-Onset:

Name: Parkinson Disease, Late-Onset 57 29 6 38 72
Parkinson Disease 57 12 24 53 25 74 37 29 55 6 44 40 72 33
Parkinson's Disease 12 75 53 25 54 43 15 17
Primary Parkinsonism 53 25 74
Paralysis Agitans 12 53 74
Pd 57 25 74
Parkinson Disease, Late-Onset, Susceptibility to 57 13
Late Onset Parkinson's Disease 12 15
Late Onset Parkinson Disease 12 74
Park 57 74
Parkinson Disease, Age of Onset, Modifier 57
Susceptibility to Parkinson's Disease 6
Parkinson Disease, Susceptibility to 57
Idiopathic Parkinson's Disease 15
Idiopathic Parkinson Disease 74
Lewy Body Parkinson Disease 74
Shaking Palsy 53
Parkinson's 63

Characteristics:

OMIM:

57
Miscellaneous:
insidious onset
progressive disorder
onset mid to late adulthood
levodopa-responsive

Inheritance:
autosomal dominant
multifactorial


HPO:

32
parkinson disease, late-onset:
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course progressive insidious onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060892 DOID:14330
KEGG 37 H00057
ICD9CM 35 332 332.0
MeSH 44 D010300
NCIt 50 C26845
SNOMED-CT 68 49049000
ICD10 33 G20
UMLS 72 C0030567 C3160718

Summaries for Parkinson Disease, Late-Onset

NIH Rare Diseases : 53 Parkinson disease (PD) is a neurologic disease that affects the movement. The four main symptoms are tremors of the hands, arms, legs, jaw, or head, specially at rest; rigidity, or stiffness; bradykinesia, or slow movement; and postural instability or inability to find balance. The symptoms start slowly, but progress over time, impairing everyday activities such as walking, talking, or completing simple tasks. Other symptoms may include emotional problems, trouble swallowing and speaking; urinary problems or constipation; skin problems; sleep problems, low blood pressure when standing up from sitting or lying down (postural hypotension), and inexpressive face. Some people will loose their mental abilities (dementia). Parkinson disease affects several regions of the brain, especially a region known as "substantia nigra" that helps controlling balance and movement. Most cases of PD are sporadic (with no family history), and with onset around 60 years of age; onset before age 20 years is considered to be juvenile-onset Parkinson disease, and after age 50 years is considered late-onset Parkinson disease. However, in some families, there are several cases of Parkinson disease. Familial cases of Parkinson disease, and maybe some sporadic cases, can be caused by changes (mutations) in several genes, such as: Mutations in the SNCA (PARK1), LRRK2 (PARK8), and VPS35 (PARK17) genes are inherited in an autosomal dominant manner. Mutations in genes PARK2, PARK7, and PINK1 (PARK6) appear to be inherited in a recessive manner. Very rare mutations in the TAF1 gene cause Parkinson disease with X-linked inheritance. Mutations in some genes, including GBA and UCHL1 (PARK 5), do not seem to cause Parkinson disease, but to increase the risk of developing the disease in some families. Autosomal recessive PD have earlier onset than autosomal dominant PD. Some studies suggest that these genes are also involved in early-onset or juvenile PD. However, inheriting a mutation does not always mean that a person will have Parkinson's disease, because there may be other genes and environmental factors determining who will develop Parkinson disease. Treatment is usually based on a medication known as levodopa. Other medication includes bromocriptine, pramipexole, ropinirole, amantadine, rasagiline and safinamide. Deep brain stimulation (DBS) a surgical procedure where electrodes are implanted into the brain may be useful for some people. Prognosis varies, and while some people become disabled, others will have only minor movement problems. Studies have shown that people with PD who have cognitive impairment, postural hypotension, and sleep problems may have a more rapid progression of the disease.

MalaCards based summary : Parkinson Disease, Late-Onset, also known as parkinson disease, is related to parkinson disease 3, autosomal dominant and dementia, lewy body, and has symptoms including seizures, tremor and constipation. An important gene associated with Parkinson Disease, Late-Onset is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Parkinson disease and Parkinsons Disease Pathway. The drugs Acetylcholine and Zonisamide have been mentioned in the context of this disorder. Affiliated tissues include Brain and Brain, and related phenotypes are hallucinations and abnormal autonomic nervous system physiology

Disease Ontology : 12 A synucleinopathy that has material basis in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.

Genetics Home Reference : 25 Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement. Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time. Parkinson disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory. Generally, Parkinson disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson disease.

OMIM : 57 Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD; 104300), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). (168600)

MedlinePlus : 43 Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't produce enough of a brain chemical called dopamine. Sometimes it is genetic, but most cases do not seem to run in families. Exposure to chemicals in the environment might play a role. Symptoms begin gradually, often on one side of the body. Later they affect both sides. They include Trembling of hands, arms, legs, jaw and face Stiffness of the arms, legs and trunk Slowness of movement Poor balance and coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple tasks. They may also have problems such as depression, sleep problems, or trouble chewing, swallowing, or speaking. There is no lab test for PD, so it can be difficult to diagnose. Doctors use a medical history and a neurological examination to diagnose it. PD usually begins around age 60, but it can start earlier. It is more common in men than in women. There is no cure for PD. A variety of medicines sometimes help symptoms dramatically. Surgery and deep brain stimulation (DBS) can help severe cases. With DBS, electrodes are surgically implanted in the brain. They send electrical pulses to stimulate the parts of the brain that control movement. NIH: National Institute of Neurological Disorders and Stroke

NINDS : 54 Parkinson's disease (PD) belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells. The four primary symptoms of PD are tremor, or trembling in hands, arms, legs, jaw, and face; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance and coordination. As these symptoms become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. PD usually affects people over the age of 60.  Early symptoms of PD are subtle and occur gradually.  In some people the disease progresses more quickly than in others.  As the disease progresses, the shaking, or tremor, which affects the majority of people with PD may begin to interfere with daily activities.  Other symptoms may include depression and other emotional changes; difficulty in swallowing, chewing, and speaking; urinary problems or constipation; skin problems; and sleep disruptions.  There are currently no blood or laboratory tests that have been proven to help in diagnosing sporadic PD.  Therefore the diagnosis is based on medical history and a neurological examination.  The disease can be difficult to diagnose accurately.   Doctors may sometimes request brain scans or laboratory tests in order to rule out other diseases.

KEGG : 37
Parkinson disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations in alpha-synuclein, UCHL1 (a ubiquitin carboxy-terminal hydrolase L1), parkin, DJ1 (a parkin-associated protein involved with oxidative stress), and PINK1 (a putative serine threonine kinase) are known to cause early-onset PD. Mutations or altered expression of these proteins contributes to the damage and subsequent loss of DA neurons through common mechanisms that result in proteasome dysfunction, mitochondrial impairment, and oxidative stress. The demise of DA neurons located in the SNc leads to a drop in the dopaminergic input to the striatum. This results in a reduced activation of the direct pathway and in a disinhibition of the indirect pathway, which is associated with the elevation of adenosine A2A receptor transmission. Such unbalanced activity of the striatal output pathway is at the basis of the motor impairment observed in PD.

UniProtKB/Swiss-Prot : 74 Parkinson disease: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.

PubMed Health : 63 About parkinson's: Parkinson's is a disease of the nervous system that mostly affects older people. It typically begins after the age of 50. The disease can be very hard to live with because it severely restricts mobility and as a result makes daily activities increasingly difficult. Parkinson's is a progressive disease, which means that in most cases it will continue to gradually get worse. Many people who develop Parkinson’s will require nursing care. There is no cure for the disease and its exact cause is not known, but there are effective treatments that can relieve the symptoms.

Wikipedia : 75 Parkinson's disease (PD) is a long-term degenerative disorder of the central nervous system that mainly... more...

GeneReviews: NBK1223

Related Diseases for Parkinson Disease, Late-Onset

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson's Disease Early-Onset Parkinson's Disease
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease, Late-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1580)
# Related Disease Score Top Affiliating Genes
1 parkinson disease 3, autosomal dominant 35.1 PRKN MAPT
2 dementia, lewy body 33.6 PRKN MAPT GBA
3 tremor 32.4 PRKN MAPT GBA ATXN2
4 movement disease 32.1 PRKN MAPT GBA
5 dementia 32.0 PRKN MAPT GBA ATXN2
6 early-onset parkinson's disease 31.8 VPS13C PRKN GBA
7 autosomal dominant cerebellar ataxia 31.5 TBP ATXN8OS ATXN2
8 amyotrophic lateral sclerosis 1 31.4 NEAT1 MAPT MALAT1 ATXN2
9 osteogenic sarcoma 31.1 SNHG1 NEAT1 MALAT1
10 alzheimer disease mitochondrial 30.7 MT-ND1 MAPT
11 corticobasal degeneration 30.5 MAPT GBA
12 parkes weber syndrome 12.8
13 parkinson disease 4, autosomal dominant 12.8
14 parkinson disease 15, autosomal recessive early-onset 12.7
15 parkinson disease 23, autosomal recessive early-onset 12.7
16 parkinson disease 5, autosomal dominant 12.7
17 parkinson disease 14, autosomal recessive 12.6
18 parkinson disease 11, autosomal dominant 12.6
19 parkinson disease 7, autosomal recessive early-onset 12.6
20 parkinson disease 13, autosomal dominant 12.6
21 parkinson disease 22, autosomal dominant 12.6
22 parkinson disease 12 12.4
23 postencephalitic parkinson disease 12.4
24 vps35-related parkinson disease 12.3
25 prolidase deficiency 12.0
26 glaucoma-related pigment dispersion syndrome 11.9
27 capillary malformation-arteriovenous malformation 1 11.8
28 pendred syndrome 11.8
29 waisman syndrome 11.7
30 klippel-trenaunay-weber syndrome 11.6
31 parkinson disease type 9 11.6
32 panic disorder 11.6
33 central pain syndrome 11.5
34 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 11.5
35 paroxysmal dyskinesia 11.5
36 juvenile-onset parkinson's disease 11.4
37 multiple system atrophy 1 11.4
38 personality disorder 11.4
39 developmental coordination disorder 11.4
40 ehlers-danlos syndrome, spondylodysplastic type, 1 11.3
41 drug induced dyskinesia 11.3
42 cervical dystonia 11.3
43 swallowing disorders 11.3
44 paralysis agitans, juvenile, of hunt 11.3
45 erythroleukemia, familial 11.3
46 capillary malformation-arteriovenous malformation 2 11.3
47 ectodermal dysplasia/skin fragility syndrome 11.2
48 parkinson disease 19a, juvenile-onset 11.2
49 mitochondrial complex i deficiency, nuclear type 1 11.2
50 palladium allergic contact dermatitis 11.2

Comorbidity relations with Parkinson Disease, Late-Onset via Phenotypic Disease Network (PDN): (show top 50) (show all 51)


Active Peptic Ulcer Disease Acute Conjunctivitis
Acute Cystitis Alzheimer Disease
Anxiety Atypical Depressive Disorder
Autonomic Nervous System Disease Bipolar Disorder
Blepharitis Bronchitis
Bronchopneumonia Cerebral Atherosclerosis
Cerebral Degeneration Cerebrovascular Disease
Communicating Hydrocephalus Conjunctivitis
Cystitis Decubitus Ulcer
Deficiency Anemia Delusional Disorder
Dependent Personality Disorder Dysthymic Disorder
Early-Onset Generalized Limb-Onset Dystonia Encephalopathy
Erythematosquamous Dermatosis Esophagitis
Generalized Atherosclerosis Heart Disease
Hypothyroidism Intestinal Volvulus
Iron Deficiency Anemia Leukodystrophy
Major Affective Disorder 9 Major Depressive Disorder
Marasmus Mood Disorder
Neurogenic Bladder Obstructive Hydrocephalus
Osteoporosis Paralytic Ileus
Paranoid Schizophrenia Pernicious Anemia
Personality Disorder Prostatic Hypertrophy
Protein-Energy Malnutrition Pseudobulbar Palsy
Schizophrenia Schizophreniform Disorder
Swallowing Disorders Tardive Dyskinesia

Graphical network of the top 20 diseases related to Parkinson Disease, Late-Onset:



Diseases related to Parkinson Disease, Late-Onset

Symptoms & Phenotypes for Parkinson Disease, Late-Onset

Human phenotypes related to Parkinson Disease, Late-Onset:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hallucinations 32 occasional (7.5%) HP:0000738
2 abnormal autonomic nervous system physiology 32 occasional (7.5%) HP:0012332
3 depressivity 32 HP:0000716
4 dysarthria 32 HP:0001260
5 tremor 32 HP:0001337
6 dysphagia 32 HP:0002015
7 constipation 32 HP:0002019
8 sleep disturbance 32 HP:0002360
9 dystonia 32 HP:0001332
10 mask-like facies 32 HP:0000298
11 rigidity 32 HP:0002063
12 dementia 32 HP:0000726
13 weak voice 32 HP:0001621
14 bradykinesia 32 HP:0002067
15 urinary urgency 32 HP:0000012
16 parkinsonism 32 HP:0001300
17 neuronal loss in central nervous system 32 HP:0002529
18 personality changes 32 HP:0000751
19 postural instability 32 HP:0002172
20 substantia nigra gliosis 32 HP:0011960
21 lewy bodies 32 HP:0100315
22 resting tremor 32 HP:0002322
23 micrographia 32 HP:0031908
24 short stepped shuffling gait 32 HP:0007311

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
dystonia
rigidity
bradykinesia
shuffling gait
more
Genitourinary Bladder:
urinary urgency

Head And Neck Face:
masked facies

Abdomen Gastrointestinal:
dysphagia
constipation

Neurologic Behavioral Psychiatric Manifestations:
depression

Head And Neck Nose:
decreased sense of smell

Clinical features from OMIM:

168600

UMLS symptoms related to Parkinson Disease, Late-Onset:


seizures, tremor, constipation, angina pectoris, myoclonus, back pain, pain, headache, bradykinesia, hyposmia, syncope, chronic pain, resting tremor, sciatica, sleep disturbances, vertigo/dizziness, equilibration disorder, sleeplessness, muscle rigidity, urgency of micturition

Drugs & Therapeutics for Parkinson Disease, Late-Onset

PubMed Health treatment related to Parkinson Disease, Late-Onset: 63

Parkinson's is usually treated with medication. At the beginning of the disease – when the symptoms are not problematic – treatment is sometimes not necessary. If the symptoms get worse, medication can help. Treatment with medication generally aims to replace the lacking dopamine. That often relieves symptoms, but does not slow the progress of the disease. Because over time the drugs are no longer effective, the type and dose of medication has to be adjusted again and again. One option is to use a medication pump. It provides the drug either under the skin or directly into the small intestine and ensures a constant supply. Occupational therapy is used to practice everyday movements and activities. Restricted movement means that the muscles lose strength. Movement exercises (physiotherapy) and sports aim to help counteract that and improve movement and coordination. Speech therapy can be an option if the voice becomes quieter and speech less clear. Deep brain stimulation is recommended to some people whose symptoms are not relieved enough by taking medication. That involves surgery to implant electrodes in certain parts of the brain. They continuously emit electrical impulses that influence muscle activity.

DrugBank drugs 16 :

(show all 15)
# Drug Name Indication DrugBank ID
1 Amantadine For the chemoprophylaxis, prophylaxis, and treatment of signs and symptoms of infection caused by various strains of influenza A virus. Also for the treatment of parkinsonism and drug-induced extrapyramidal reactions. DB00915
2 Benserazide The primary therapeutic use for which benserazide is currently indicated for is as a combination therapy with levadopa for the treatment of Parkinson's disease in adults > 25 years of age, with the exception of drug-induced parkinsonism [F2, L2553]. At certain doses, the combination product of levodopa and benserazide may also be used to treat restless legs syndrome, which is sometimes associated with Parkinson's disease [L2553, T181]. There have also been some studies that have prompted the European Medicines Agency to confer orphan designation upon benserazide hydrochloride as a potential therapy for beta thalassaemia [F3]. Although studies are ongoing, no evidence has been formally elucidated as of yet [F3]. DB12783
3 Bromocriptine For the treatment of galactorrhea due to hyperprolactinemia, prolactin-dependent menstrual disorders and infertility, prolactin-secreting adenomas, prolactin-dependent male hypogonadism, as adjunct therapy to surgery or radiotherapy for acromegaly or as monotherapy is special cases, as monotherapy in early Parksinsonian Syndrome or as an adjunct with levodopa in advanced cases with motor complications. Bromocriptine has also been used off-label to treat restless legs syndrome and neuroleptic malignant syndrome. DB01200
4 Carbidopa Carbidopa is indicated with [levodopa] for the treatment of symptoms of idiopathic Parkinson disease, postencephalitic parkinsonism and symptomatic parkinsonism followed by carbon monoxide or manganese intoxication.[FDA label] The combination therapy is administered for the reduction of [levodopa]-driven nausea and vomiting.[FDA label] The product of carbidopa should be used in patients where the combination therapy of carbidopa/[levodopa] provide less than the adequate daily dosage.[FDA label] As well carbidopa can be used in patients where the dosages of carbidopa and [levodopa] require individual titration.[FDA label] DB00190
5 Entacapone Used as an adjunct to levodopa / carbidopa in the symptomatic treatment of patients with idiopathic Parkinson's Disease who experience the signs and symptoms of end-of-dose "wearing-off". DB00494
6 Levodopa Levodopa on its own is formulated as an oral inhalation powder indicated for intermittent treatment of off episodes in Parkinson's patients who are already being treated with carbidopa and levodopa[FDA Label]. Levodopa is most commonly formulated as an oral tablet with a peripheral dopa decarboxylase inhibitor indicated for treatment of Parkinson's disease, post-encephalitic parkinsonism, and symptomatic parkinsonism following carbon monoxide intoxication or manganese intoxication[F4579]. DB01235
7 Opicapone Opicapone is approved as an adjunctive therapy in adults with Parkinson’s disease and end-of-dose motor fluctuations whose symptoms cannot be stabilized on levodopa/dopa decarboxylase inhibitor combinations [L2336]. DB11632
8 Pramipexole This drug is indicated for the symptomatic treatment of Parkinson’s disease [FDA label]. This drug can be administered as monotherapy or in conjunction with levodopa. It is also indicated for symptomatic treatment of moderate to severe primary Restless Legs Syndrome (RLS) [FDA label]. DB00413
9 Profenamine For use in the treatment of Parkinson's disease and also used to control severe reactions to certain medicines such as reserpine. DB00392
10 Rasagiline For the treatment of the signs and symptoms of idiopathic Parkinsons disease as initial monotherapy and as adjunct therapy to levodopa. DB01367
11 Ropinirole For the treatment of the signs and symptoms of Parkinson's disease and for the treatment of primary moderate-severe restless legs syndrome [FDA label]. DB00268
12 Rotigotine For use/treatment in neurologic disorders and parkinson's disease as well as moderate-to-severe primary Restless Legs Syndrome. DB05271
13 Safinamide Safinamide is indicated as an add-on treatment to levodopa with or without other medicines for Parkinson’s disease DB06654
14 Selegiline Monotherapy for initial treatment of Parkinson's disease, as well as an adjunct therapy in patients with a decreased response to levodopa/carbadopa. Also used for the palliative treatment of mild to moderate Alzheimer's disease and at higher doses, for the treatment of depression. DB01037
15 Tolcapone Used as an adjunct to levodopa/carbidopa therapy for the symptomatic treatment of Parkinson's Disease. This drug is generally reserved for patients with parkinsonian syndrome receiving levodopa/carbidopa who are experiencing symptom fluctuations and are not responding adequately to or are not candidates for other adjunctive therapies. DB00323

Drugs for Parkinson Disease, Late-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 696)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
3
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
4
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
5
Dinoprostone Approved Phase 4 363-24-6 5280360
6
Trimethobenzamide Approved, Investigational Phase 4 138-56-7 5577
7
Ropinirole Approved, Investigational Phase 4 91374-21-9, 91374-20-8 5095 497540
8
Amantadine Approved Phase 4 768-94-5 2130
9
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
10
Simvastatin Approved Phase 4 79902-63-9 54454
11
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
12
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
13
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
14
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
15
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
16
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
17
Primaquine Approved Phase 4 90-34-6 4908
18
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
19
Cycloserine Approved Phase 4 68-41-7 6234 401
20
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
21
Mycophenolic acid Approved Phase 4 24280-93-1 446541
22
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
23
Ezetimibe Approved Phase 4 163222-33-1 150311
24
Linaclotide Approved Phase 4 851199-59-2 65351
25
Benserazide Approved, Investigational Phase 4 322-35-0
26
Sulfamethazine Approved, Investigational, Vet_approved Phase 4 57-68-1 5327
27
Mirabegron Approved Phase 4 223673-61-8 9865528
28
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
29
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
30
Suvorexant Approved, Investigational Phase 4 1030377-33-3
31
Fesoterodine Approved Phase 4 286930-03-8, 286930-02-7 6918558
32
Lactulose Approved Phase 4 4618-18-2 11333
33
Ondansetron Approved Phase 4 99614-02-5 4595
34
Simethicone Approved Phase 4 8050-81-5
35
Donepezil Approved Phase 4 120014-06-4 3152
36
Topiramate Approved Phase 4 97240-79-4 5284627
37
Memantine Approved, Investigational Phase 4 19982-08-2 4054
38
Iodine Approved, Investigational Phase 4 7553-56-2 807
39
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
40
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
41
Amitriptyline Approved Phase 4 50-48-6 2160
42
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
43
Propranolol Approved, Investigational Phase 4 525-66-6 4946
44
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
45
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
46
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
47
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
48
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
49
Rizatriptan Approved Phase 4 144034-80-0, 145202-66-0 5078
50
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755

Interventional clinical trials:

(show top 50) (show all 3108)
# Name Status NCT ID Phase Drugs
1 A Prospective Randomized Placebo-Controlled Double-Blind Study Assessing Change in Olfactory Function After Initiation of Rasagiline in Idiopathic Parkinson's Disease Unknown status NCT01007630 Phase 4 Rasagiline;Placebo
2 An Open-Label Tolerability and Exploratory Efficacy Study of Zonisamide for Dyskinesias in Parkinson's Disease Unknown status NCT03034538 Phase 4 Zonegran;Zonegran
3 Evaluation of the Efficacy of Rasagiline in Apathy in Drug-naïve Patients With Parkinson's Disease by a Multi-center, Randomized, Double-blind, Parallel-group, Placebo-controlled Study. Unknown status NCT01765257 Phase 4 AZILECT®;Placebo
4 Effect of Melatonin on Sleep Disturbances in Patients With Parkinson's Disease: Double Blind, Randomized, Placebo Controlled Trial Unknown status NCT02768077 Phase 4 Melatonin(Circadin®);Placebo
5 Effect of Melatonin on Sleep Disturbances in Patients With Parkinson's Disease: Double Blind, Randomized, Placebo Controlled Trial Unknown status NCT03258294 Phase 4 Melatonin(Circadin®);Placebo Oral Tablet
6 A Randomized, Double-blind, Placebo Controlled, Crossover Study to Evaluate the Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4 Donepezil
7 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease: A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Over 3 Months Unknown status NCT00696215 Phase 4 placebo;rasagiline
8 An Open-label, Randomized, Multi-center, Crossover Study to Observe the Effect of Once-daily Mirapex ER® and Twice-daily Mirapex ER® in Patients With Parkinson Disease Unknown status NCT01515774 Phase 4 Mirapex ER
9 The Use of Toxin Botulinum A Toxin in Patients With Parkinson's Disease and Multiple System Disease, Affected by Refractory Detrusor Overactivity. Unknown status NCT00822913 Phase 4 Intravesical injection of Botulinum A toxin
10 Effect of Deep Brain Stimulation on Gait of Patients With Parkinson's Disease Depending on Electrode Location in Subthalamic Area. Unknown status NCT01782638 Phase 4
11 Cognitive Dysfunction in PD: Pathophysiology and Potential Treatments, a Pilot Study Unknown status NCT01340885 Phase 4 Strattera;Exelon
12 Double Bind Randomized Placebo-controlled Cross-over Study to Evaluate Effect of Continuous Apomorphine During the Night on Sleep Disorders in Insomniac Patients With Parkinson's Disease Unknown status NCT02940912 Phase 4 Apomorphine;Placebo
13 Nicotine Treatment of Impulsivity in Parkinson's Disease: A Pilot Study Unknown status NCT01216904 Phase 4 nicotine patch;placebo
14 A Study of the Utility of Botulinum Toxin Type A for Pain in Advanced Parkinson's Disease Double Blind Placebo Control Crossover Pilot Study Unknown status NCT02472210 Phase 4 Botulinum Toxin
15 Role of Dopamine on Loss Aversion Behaviour: Study on Parkinsonian Patients. Unknown status NCT01780467 Phase 4
16 Rotigotine Effect on Nocturnal Hypokinesia Compares to Placebo Control: A Quantitative Assessment by Wearable Sensors Unknown status NCT03098368 Phase 4 Rotigotine;Placebo
17 Effects of Azilect (Rasagiline) on Processing of Emotions, Mood and Executive Function in Parkinson`s Disease Unknown status NCT01385735 Phase 4 Rasagiline;Placebo
18 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
19 A Double Blind, Placebo-controlled Study for the Effect of IV Amantadine on Freezing of Gait (FOG) Resistant to Dopaminergic Therapy Unknown status NCT01313819 Phase 4 PK-Merz® 200mg/500ml inj(Amantadine) , Normal saline 500ml inj
20 An Evaluation of Sulfadoxine-pyrimethamine Resistance and Effectiveness of IPTp in Nigeria Unknown status NCT01636895 Phase 4 Efficacy of suphladoxine/pyrimethamine as IPTp;Efficacy of suphladoxine/pyrimethamine as IPTp
21 The Study to Assess the Effect of Trimetazidine on Index of Microcirculatory Resistance (IMR), Measured by Coronary Pressure and Temperature Wire, in Patients With Stable Coronary Artery Disease Unknown status NCT02107144 Phase 4 trimetazidine
22 Therapeutic Effect of Ursodeoxycholic Acid on Duodenal Permeability and Meal Related Sensory Motor Function in Functional Dyspepsia Patients Unknown status NCT03004118 Phase 4 Placebo Oral Tablet;Ursochol oral tablet
23 A Randomized, Double-blind, Placebo-controlled Study of Dexlansoprazole to Treat Laryngopharyngeal Reflux and Lingual Tonsil Hypertrophy Unknown status NCT01328652 Phase 4 dexlansoprazole
24 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
25 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
26 Double Blind, Placebo-controlled, Parallel, Multicenter, Randomized Interventional Phase IV Study to Evaluate the Efficacy of Rotigotine on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4 Rotigotine;Placebo
27 An Open-Label, Multicenter, Multinational Study to Assess the Feasibility of Switching Therapy From Pramipexole or Ropinirole to the Rotigotine Transdermal System and Its Effect on Motor and Non-Motor Symptoms in Subjects With Advanced Idiopathic Parkinson's Disease Phase 4 Completed NCT01711866 Phase 4 Rotigotine
28 Open-label, Multicenter, Effectiveness and Safety Study of Once Daily AZILECT® as Mono- or Adjunct Therapy in Patients With Idiopathic Parkinson's Disease (PD) Completed NCT00399477 Phase 4 rasagiline mesylate;Rasagiline mesylate plus Mirapex;Rasagiline mesylate with Levodopa;Rasagiline mesylate with Requip
29 Multicentre, Randomised, Double-Blind Study to Compare Stalevo to Levodopa/Carbidopa in Patients With Parkinson's Disease Experiencing Symptoms of Early Wearing-Off Completed NCT00125567 Phase 4 Stalevo (levodopa/carbidopa/entacapone);Levodopa/carbidopa
30 A Long-term Health Economics Study of Intraduodenal Levodopa (Duodopa®) in Routine Care for Patients With Advanced Idiopathic Parkinson's Disease With Severe Motor Fluctuations and Hyper-/Dyskinesia Completed NCT00141518 Phase 4 Levodopa-carbidopa intestinal gel (LCIG)
31 An Explorative, Multicenter, Open-label Pilot Trial With Neupro® (Rotigotine Transdermal Patch) Once Daily Treatment Administered Perioperatively in Patients With Idiopathic Parkinson's Disease Completed NCT00594464 Phase 4 Rotigotine
32 Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson's Disease: Changes in Biomarkers of Oxidative Stress, Profiles of Plasma Amino Acids and Their Derivatives and Brain Function Completed NCT01662414 Phase 4
33 Multicenter, Double-blind, Placebo-controlled, Parallel-group, Phase IV Study to Assess the Effect of Rotigotine on Non-motor Symptoms in Patients With Idiopathic Parkinson's Disease Completed NCT01300819 Phase 4 Rotigotine
34 A Multicenter, Multinational, Double-Blind, Placebo-Controlled, 3-Arm, Phase 4 Study To Evaluate The Efficacy Of Rotigotine On Parkinson's Disease-Associated Apathy, Motor Symptoms, And Mood Completed NCT01782222 Phase 4 Rotigotine
35 Reversibility of Olfactory Loss in Patients With Idiopathic Parkinson's Disease Following Treatment With Rasagiline Completed NCT00902941 Phase 4 Azilect 1mg;Placebo
36 A Randomised, Double-blind, Placebo-controlled Study to Evaluate if Rasagiline Can Improve Depressive Symptoms and Cognitive Function in Non-demented, Idiopathic Parkinson's Disease Patients: ACCORDO Study Completed NCT01055379 Phase 4 Rasagiline;Placebo
37 A 24-Week, Multicenter, Randomized, Double-blind, Placebo-Controlled, Add-on, Parallel-Group Study to Assess the Effect of Rasagiline on Cognition in Patients With Parkinson's Disease Completed NCT01723228 Phase 4 Rasagiline;Placebo
38 An Open-Label Study of Aripiprazole to Evaluate the Safety and Tolerability in Patients With Psychosis Associated With Parkinson's Disease Completed NCT00095810 Phase 4 aripiprazole
39 A Multicenter, Multinational, Double-Blind, Placebo-Controlled, 2-Arm Study to Evaluate the Efficacy of Rotigotine on Parkinson's Disease-Associated Pain Completed NCT01744496 Phase 4 Rotigotine;Placebo
40 Study to Compare the Effect of Treatment With Carbidopa/Levodopa/Entacapone on the Quality of Life of Patients With Parkinson's Disease. Completed NCT00143026 Phase 4 carbidopa, levodopa, entacapone
41 URGE-PD: A Multi-site, Double-blind, Randomized, Placebo Controlled Trial of Solifenacin Succinate (VESIcare) for the Treatment of Overactive Bladder in Parkinson's Disease Completed NCT01018264 Phase 4 solifenacin succinate (VESIcare);placebo
42 Effect of Pramipexole and Bromocriptine on Nonmotor Symptoms of Early Parkinson's Disease: Multicenter, Open-label, Parallel, Randomized Study Completed NCT01673724 Phase 4 pramipexole;Bromocriptine
43 A 16 WEEK, INVESTIGATOR-INITIATED, SINGLE-CENTER, DOUBLE BLIND, RANDOMIZED, PLACEBO-CONTROLLED TRIAL OF NAMENDA® (MEMANTINE HCL) FOR NON-MOTOR SYMPTOMS IN PARKINSON'S DISEASE Completed NCT00646204 Phase 4 Memantine;placebo
44 Open Label, Exploratory Clinical Trial to Assess the Safety, Tolerability and Effectiveness of a Switching From Talipexole to Pramipexole Completed NCT02231905 Phase 4 BI-Sifrol®
45 COMPARISON OF ORALLY DISSOLVING LEVODOPA (PARCOPA®) TO CONVENTIONAL ORAL LEVODOPA: A SINGLE DOSE, DOUBLE-BLIND, PLACEBO CONTROLLED, CROSS-OVER TRIAL Completed NCT00590122 Phase 4 Parcopa;carbidopa-levodopa
46 A Double Blind Placebo Controlled Trial Evaluating Rasagiline Effects on Cognition in Parkinson's Disease Patients With Mild Cognitive Impairment Receiving Dopaminergic Therapy Completed NCT01497652 Phase 4 Rasagiline/Placebo;Rasagiline
47 Influence of Catechol-O-methyltransferase Polymorphism on Entacapone Efficacy in Parkinson's Disease Completed NCT00373087 Phase 4 entacapone;l dopa versus placebo
48 A Randomised, Double-blind, Placebo-controlled, 6-month Study of the Efficacy and Safety of Memantine in Patients With Parkinson's Disease Dementia or Dementia With Lewy Bodies Completed NCT00855686 Phase 4 Memantine;Placebo
49 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
50 Clinical and Pharmacokinetics Study to Evaluate the Therapeutic Equivalence and Bioequivalence of Levodopa Benserazide Generic Formulation (Teva Italia) Versus the Originator (Madopar®) Completed NCT02741947 Phase 4 Levodopa Benserazide Madopar;Levodopa Benserazide Teva Italia

Search NIH Clinical Center for Parkinson Disease, Late-Onset

Inferred drug relations via UMLS 72 / NDF-RT 51 :


2-Bromoergocryptine Mesylate
Amantadine
Amantadine
Amantadine Hydrochloride
Apomorphine
Apomorphine hydrochloride
Benserazide
Benztropine
benztropine mesylate
Biperiden
Biperiden Hydrochloride
biperiden lactate
Bromocriptine
Bromocriptine
cabergoline
Carbidopa
Carbidopa
entacapone
Entacapone
Levodopa
Levodopa
Opicapone
Pergolide
Pergolide Mesylate
Pramipexole
Pramipexole
Pramipexole dihydrochloride
Profenamine
Rasagiline
ropinirole
Ropinirole
Ropinirole hydrochloride
Rotigotine
Safinamide
Selegiline
Selegiline
selegiline hydrochloride
tolcapone
Tolcapone
Trihexyphenidyl
Trihexyphenidyl Hydrochloride

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Parkinson Disease, Late-Onset cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: parkinson disease

Genetic Tests for Parkinson Disease, Late-Onset

Genetic tests related to Parkinson Disease, Late-Onset:

# Genetic test Affiliating Genes
1 Parkinson Disease 29
2 Parkinson Disease, Late-Onset 29 ADH1C ATXN2 ATXN8OS GBA GLUD2 MAPT NR4A2 SNCAIP TBP

Anatomical Context for Parkinson Disease, Late-Onset

MalaCards organs/tissues related to Parkinson Disease, Late-Onset:

41
Brain, Subthalamic Nucleus, Testes, Cortex, Eye, Skin, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Parkinson Disease, Late-Onset:
# Tissue Anatomical CompartmentCell Relevance
1 Brain Substantia Nigra pars Compacta Adult Dopaminergic Neurons Affected by disease, potential therapeutic candidate
2 Brain Forebrain White Matter Fibrous Astrocyte Cells Potential therapeutic candidate
3 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
4 Brain Neocortex Protoplasmic Astrocyte Cells Potential therapeutic candidate
5 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Parkinson Disease, Late-Onset

Articles related to Parkinson Disease, Late-Onset:

(show top 50) (show all 12180)
# Title Authors PMID Year
1
The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease. 9 38 8 71
18541817 2008
2
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. 9 38 8 71
18332251 2008
3
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. 9 38 8 71
17620502 2007
4
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. 9 8 71
19286695 2009
5
Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. 9 8 71
12761037 2003
6
Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset. 8 71
19826450 2010
7
Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. 38 88 71
18252210 2008
8
Serotonin 2A receptors and visual hallucinations in Parkinson disease. 9 38 8
20385906 2010
9
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. 9 38 8
18434642 2008
10
Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. 9 38 8
16476943 2006
11
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. 9 38 8
14570706 2003
12
Direct brain infusion of glial cell line-derived neurotrophic factor in Parkinson disease. 9 38 8
12669033 2003
13
Mutations in NR4A2 associated with familial Parkinson disease. 9 38 71
12496759 2003
14
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. 9 38 8
11710889 2001
15
Genetic polymorphism of cytochrome P450 2D6 in idiopathic Parkinson disease and diffuse Lewy body disease. 9 38 8
9316701 1994
16
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. 38 8
25631192 2015
17
The COMT Val158Met polymorphism affects the response to entacapone in Parkinson's disease: a randomized crossover clinical trial. 38 8
21280081 2011
18
Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. 38 8
20837857 2010
19
Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus. 38 8
20697102 2010
20
Association of pyridoxal kinase and Parkinson disease. 38 8
20373354 2010
21
The PDXK rs2010795 variant is not associated with Parkinson disease in Italy. 38 8
20373357 2010
22
LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease. 38 8
19458969 2010
23
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. 38 8
20035503 2009
24
Family history of melanoma and Parkinson disease risk. 38 8
19841380 2009
25
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 9 8
19846850 2009
26
Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18. 38 8
19327735 2009
27
FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression. 9 71
19133659 2009
28
Genomewide association study for susceptibility genes contributing to familial Parkinson disease. 38 8
18985386 2009
29
Genetic association study of synphilin-1 in idiopathic Parkinson's disease. 9 71
18366718 2008
30
Factors associated with dopaminergic drug-related pathological gambling in Parkinson disease. 38 8
17296836 2007
31
Mitochondria in Parkinson disease: back in fashion with a little help from genetics. 38 8
16682534 2006
32
Early descriptions of Parkinson disease in ancient China. 38 8
16682554 2006
33
GSK3B polymorphisms alter transcription and splicing in Parkinson's disease. 9 8
16315267 2005
34
High-resolution whole-genome association study of Parkinson disease. 38 8
16252231 2005
35
Association between family history of dementia and hallucinations in Parkinson disease. 38 8
15911796 2005
36
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. 9 8
15525722 2004
37
No evidence for heritability of Parkinson disease in Swedish twins. 38 8
15277625 2004
38
Prevalence of Parkinson disease in Singapore: Chinese vs Malays vs Indians. 38 8
15184604 2004
39
Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease. 38 71
15184637 2004
40
Parkinson Disease Overview 38 71
20301402 2004
41
Extended mutation analysis and association studies of Nurr1 (NR4A2) in Parkinson disease. 38 71
15079038 2004
42
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. 9 71
14756671 2004
43
A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease. 9 71
14991826 2004
44
Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. 9 71
14991829 2004
45
Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. 38 8
12925570 2003
46
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. 38 8
12618962 2003
47
Association between Parkinson's disease and polymorphisms in the nNOS and iNOS genes in a community-based case-control study. 9 8
12490535 2003
48
Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. 38 8
12058349 2002
49
Segregation analysis of Parkinson disease revealing evidence for a major causative gene. 38 8
11977177 2002
50
Age at onset in two common neurodegenerative diseases is genetically controlled. 38 8
11875758 2002

Variations for Parkinson Disease, Late-Onset

ClinVar genetic disease variations for Parkinson Disease, Late-Onset:

6 (show top 50) (show all 57)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATXN3 NM_004993.5(ATXN3): c.892_894CAG(8_36) (p.Gln298_Gln305=) NT expansion Pathogenic,risk factor rs193922928 14:92537355-92537357 14:92071011-92071013
2 GBA NM_001005741.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 1:155204987-155204987 1:155235196-155235196
3 GBA NM_001005741.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 1:155204793-155204793 1:155235002-155235002
4 GBA NM_001005741.3(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 1:155207244-155207244 1:155237453-155237453
5 MT-ND1 m.3397A> G single nucleotide variant Pathogenic rs199476120 MT:3397-3397 MT:3397-3397
6 MAPT NM_016835.4(MAPT): c.1853C> T (p.Pro618Leu) single nucleotide variant Pathogenic rs63751273 17:44087755-44087755 17:46010389-46010389
7 MAPT NM_016835.4(MAPT): c.2167C> T (p.Arg723Trp) single nucleotide variant Pathogenic rs63750424 17:44101427-44101427 17:46024061-46024061
8 MAPT NM_016835.4(MAPT): c.1788T> G (p.Asn596Lys) single nucleotide variant Pathogenic rs63750756 17:44087690-44087690 17:46010324-46010324
9 GLUD2 NM_012084.4(GLUD2): c.1492T> G (p.Ser498Ala) single nucleotide variant Pathogenic rs9697983 X:120183030-120183030 X:121049176-121049176
10 ATXN2 NP_002964.3: p.Gln166(> =33) NT expansion Pathogenic,risk factor
11 GBA NM_001005741.3(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 1:155210420-155210420 1:155240629-155240629
12 MAPT NM_016835.4(MAPT): c.1835_1837ATA[1] (p.Asn613del) short repeat Pathogenic,risk factor rs63751392 17:44087740-44087742 17:46010374-46010376
13 VPS13C NM_020821.3(VPS13C): c.9568G> T (p.Glu3190Ter) single nucleotide variant Pathogenic rs869312810 15:62174851-62174851 15:61882652-61882652
14 VPS13C NM_020821.3(VPS13C): c.8445+2T> G single nucleotide variant Pathogenic rs869312809 15:62207830-62207830 15:61915631-61915631
15 VPS13C NM_020821.3(VPS13C): c.4777del (p.Gln1593fs) deletion Pathogenic rs869312811 15:62239491-62239491 15:61947292-61947292
16 VPS13C NM_020821.3(VPS13C): c.4165G> C (p.Gly1389Arg) single nucleotide variant Pathogenic rs369100678 15:62250807-62250807 15:61958608-61958608
17 VPS13C NM_020821.3(VPS13C): c.806_807insCAGA (p.Arg269fs) insertion Pathogenic rs879253853 15:62305256-62305257 15:62013057-62013058
18 TBP TBP, (CAG)n EXPANSION NT expansion Pathogenic,risk factor
19 ATXN8 ; ATXN8OS ATXN8, (CAG)n EXPANSION NT expansion Pathogenic,risk factor
20 GBA ; LOC106627981 NM_001005741.3(GBA): c.1294T> A (p.Trp432Arg) single nucleotide variant Pathogenic 1:155205566-155205566 1:155235775-155235775
21 GBA NM_001005741.3(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 1:155205563-155205563 1:155235772-155235772
22 GBA NM_001005741.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 1:155205518-155205518 1:155235727-155235727
23 GBA NM_001005741.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor