Parkinson Disease, Late-Onset (PD)

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Disease Ontology 12 DOID:0060892 DOID:14330 OMIM 56 168600 OMIM Phenotypic Series 56 PS168600 KEGG 36 H00057 ICD9CM 34 332 MeSH 43 D010300 NCIt 49 C26845

SNOMED-CT 67 49049000 ICD10 32 G20 MedGen 41 C0030567 C3160718 SNOMED-CT via HPO 68 102943000 103606006 14760008 16046003 192073007 21061000119107 225595004 25082004 252157006 255314001 26079004 263681008 288939007 312991009 32798002 34527004 35489007 367326009 399317006 40739000 43127003 52448006 53888004 61751001 7011001 75088002 78667006 80098002 8011004 8614008 more EFO 17 EFO_0002508 UMLS 71 C0030567 C3160718

NIH Rare Diseases : ⁵² 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 postencephalitic parkinson disease, and has symptoms including seizures, myoclonus and tremor. 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 Spinocerebellar ataxia. The drugs Acetylcholine and Zonisamide have been mentioned in the context of this disorder. Affiliated tissues include 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 : ⁵⁶ 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 : ⁴² 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 specific 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 : ⁵³ Parkinson's disease (PD) belongs to a group of conditions called motor system disorders, which cause unintended or uncontrollable movements of the body.  The precise cause of PD is unknown, but some cases are hereditary while others are thought to occur from a combination of genetics and environmental factors that trigger the disease.  In PD, brain cells become damaged or die in the part of the brain that produces dopamine--a chemical needed to produce smooth, purposeful movement. The four primary symptoms of PD are: tremor--shaking that has a characteristic rhythmic back and forth motion rigidity--muscle stiffness or a resistance to movement, where muscles remain constantly tense and contracted bradykinesia--slowing of spontaneous and automatic movement that can make it difficult to perform simple tasks or rapidly perform routine movements postural instability--impaired balance and changes in posture that can increase the risk of falls. Other symptoms may include difficulty swallowing, chewing, or speaking; emotional changes; urinary problems or constipation; dementia or other cognitive problems; fatigue; and problems sleeping. PD usually affects people around the age of 70 years but can occur earlier.  Women are more affected by PD.  Currently there are no specific tests that diagnose sporadic PD.

KEGG : ³⁶ 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). Both environmental factors and mutations in familial PD-linked genes such as SNCA, Parkin, DJ-1, PINK1 and LRRK2 are associated with PD pathogenesis. These pathogenic mutations and environmental factors are known to cause disease due to oxidative stress, intracellular Ca2+ homeostasis impairment, mitochondrial dysfunctions and altered protein handling compromising key roles of DA neuronal function and survival. The demise of DA neurons located in the SNc leads to a drop in the dopaminergic input to the striatum, which is hypothesized to impede movement by inducing hypo and hyper activity in striatal spiny projection neurons (SPNs) of the direct (dSPNs) and indirect (iSPNs) pathways in the basal ganglia, respectively.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁶² 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 : ⁷⁴ Parkinson's disease (PD), or simply Parkinson's, is a long-term degenerative disorder of the central... more...

GeneReviews: NBK1223

Clinical features from OMIM:

168600

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.

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2-Bromoergocryptine Mesylate Amantadine Amantadine Hydrochloride Apomorphine Apomorphine hydrochloride Benztropine benztropine mesylate Biperiden Biperiden Hydrochloride biperiden lactate Bromocriptine cabergoline Carbidopa

entacapone Levodopa Pergolide Pergolide Mesylate Pramipexole Pramipexole dihydrochloride ropinirole Ropinirole hydrochloride Selegiline selegiline hydrochloride tolcapone Trihexyphenidyl Trihexyphenidyl Hydrochloride