MCID: MLT157
MIFTS: 73

Multiple System Atrophy 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Multiple System Atrophy 1

MalaCards integrated aliases for Multiple System Atrophy 1:

Name: Multiple System Atrophy 1 57 75 38
Multiple System Atrophy 57 38 12 76 53 25 54 59 37 55 44 15 73
Shy-Drager Syndrome 12 25 54 29 6 44 73
Msa 53 25 59
Sporadic Olivopontocerebellar Atrophy 25 73
Msa1 57 75
Progressive Autonomic Failure with Multiple System Atrophy 25
Multiple System Atrophy 1, Susceptibility to 57
Multiple System Atrophy, Susceptibility to 57
Msa1, Susceptibility to 57
Multisystem Atrophy 59
Opca 25
Sds 25

Characteristics:

Orphanet epidemiological data:

59
multiple system atrophy
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Worldwide),1-5/10000 (Japan); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
progressive disorder
onset in middle age
poor response to l-dopa treatment
heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified


HPO:

32

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Multiple System Atrophy 1

NIH Rare Diseases : 53 Multiple system atrophy (MSA) causes the progressive loss of nerve cells in the brain (a neurodegenerative disease). MSA affects several areas of the brain, including the cerebellum, which is involved in controlling movement and some emotions, as well as certain types of learning and memory, and the autonomic nervous system, which controls your body’s automatic, or regulating functions, such as blood pressure, digestion and temperature.The initial symptoms of MSA start around age 50, and are very similar to the initial symptoms of Parkinson’s disease. These symptoms may include  slowness of movement, tremor, or rigidity (stiffness), clumsiness or coordination problems, difficulties with speech, orthostatic hypotension (a condition in which blood pressure drops when rising from a seated or lying down position), and  bladder control problems. Other symptoms of MSA may include muscle contractures, abnormal posture, bending of the neck, involuntary sighing, trouble sleeping and emotional problems. As MSA progresses, breathing problems while sleeping (sleep apnea) and irregular heart rhythms may develop.  MSA may be divided in 2 subtypes,  depending on the main symptoms at the time when a person with MSA is evaluated:the parkinsonian type (MSA-P), which have Parkinson disease-like symptoms, such as moving slowly, stiffness, and tremor, along with problems of balance, coordination, and autonomic nervous system dysfunction the cerebellar type (MSA-C), with primary symptoms of cerebellar ataxia (cerebellum is the part of the brain that is responsible for movement  coordination) such as problems with balance and coordination, difficulty swallowing and speaking, and abnormal eye movements  The cause of MSA is unknown, although environmental toxins, trauma, and genetic factors may be involved. Most cases occur at random, without any other cases in the family. Diagnosis of MSA is suggested by a combination of symptoms, physical examination, lab test results, and response to certain medications. However, no laboratory or imaging studies are able to confirm the diagnosis. Treatment may include medication, physical, occupational, and speech therapy, and nutritional support. There is no cure for MSA, and there is no known way to prevent the disease from getting worse. The goal of treatment is to control symptoms. Most people with MSA survive between 6-15 years after symptoms first begin.

MalaCards based summary : Multiple System Atrophy 1, also known as multiple system atrophy, is related to autonomic dysfunction and striatonigral degeneration. An important gene associated with Multiple System Atrophy 1 is COQ2 (Coenzyme Q2, Polyprenyltransferase), and among its related pathways/superpathways are Ubiquinone and other terpenoid-quinone biosynthesis and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Acetylcholine and Midodrine have been mentioned in the context of this disorder. Affiliated tissues include Limb and Bone, and related phenotypes are dysarthria and constipation

OMIM : 57 Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein (SNCA; 163890) or tau (MAPT; 157140) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013). MSA is similar clinically and pathologically to Parkinson disease (PD; 168600) and Lewy body dementia (127750). See also PARK1 (168601), which is specifically caused by mutation in the SNCA gene. Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996). (146500)

UniProtKB/Swiss-Prot : 75 Multiple system atrophy 1: A progressive neurodegenerative disorder clinically characterized by parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Pathologically, it is characterized by degeneration of striatonigral and olivopontocerebellar structures, and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein or tau.

NINDS : 54 Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s.  Although what causes MSA is unknown, the disorder's symptoms reflect the loss of nerve cells in several different areas in the brain and spinal cord that control the autonomic nervous system and coordinate muscle movements.  The loss of nerve cells may be due to the buildup of a protein called alpha-synuclein in the cells that support nerve cells in the brain.

Genetics Home Reference : 25 Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. The most frequent autonomic symptoms associated with multiple system atrophy are a sudden drop in blood pressure upon standing (orthostatic hypotension), urinary difficulties, and erectile dysfunction in men.

Wikipedia : 76 Multiple system atrophy (MSA), also known as Shy–Drager syndrome, is a rare neurodegenerative disorder... more...

Related Diseases for Multiple System Atrophy 1

Diseases related to Multiple System Atrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 172)
# Related Disease Score Top Affiliating Genes
1 autonomic dysfunction 32.7 DBH SNCA
2 striatonigral degeneration 32.5 DRD2 SLC6A3 SNCA
3 pure autonomic failure 32.4 DBH SNCA TH
4 olivopontocerebellar atrophy 31.7 MBP SNCA
5 rem sleep behavior disorder 30.7 LRRK2 SLC6A3 SNCA
6 machado-joseph disease 30.3 ATXN1 SLC6A3 SNCA
7 synucleinopathy 30.3 LRRK2 MAPT PRKN SLC6A3 SNCA SNCB
8 dementia, lewy body 30.2 LRRK2 MAPT PRKN SLC6A3 SNCA SNCB
9 tremor 30.1 LRRK2 MAPT PRKN SNCA
10 perry syndrome 30.0 SLC6A3 SNCA TH
11 spinocerebellar degeneration 30.0 ATXN1 GLUD1
12 essential tremor 29.9 LRRK2 PRKN SLC6A3 SNCA
13 pick disease of brain 29.5 MAPT SNCA SQSTM1
14 aceruloplasminemia 29.3 ATXN1 COQ2 GFAP SNCA
15 supranuclear palsy, progressive, 1 28.9 DRD2 LRRK2 MAPT PRKN SLC6A3 SNCA
16 bipolar disorder 28.6 DBH DRD2 MAPT SLC6A3 TH
17 dementia 28.4 LRRK2 MAPT PRKN SLC6A3 SNCA SNCB
18 dystonia 28.2 DRD2 PRKN SLC6A3 SQSTM1 TH
19 amyotrophic lateral sclerosis 1 28.2 GFAP MAPT SNCA SQSTM1 TH
20 movement disease 27.8 DRD2 LRRK2 MAPT PRKN SLC6A3 SNCA
21 parkinson disease, late-onset 26.4 DBH DRD2 LRRK2 MAPT PRKN SLC6A3
22 multiple system atrophy with orthostatic hypotension 12.3
23 multiple system atrophy, cerebellar type 12.2
24 multiple system atrophy, parkinsonian type 12.2
25 shwachman-diamond syndrome 1 11.9
26 salla disease 11.6
27 semantic dementia 11.4
28 dysautonomia 11.3
29 myopathy, lactic acidosis, and sideroblastic anemia 1 11.2
30 trichohepatoenteric syndrome 1 11.1
31 primary orthostatic hypotension 11.1
32 postural hypotension 11.1
33 sydenham chorea 11.1
34 rheumatic encephalitis 11.1
35 deafness, autosomal dominant 69 11.0
36 microcephaly 1, primary, autosomal recessive 10.9
37 desbuquois dysplasia 1 10.9
38 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.9
39 macrocephaly/autism syndrome 10.9
40 sandhoff disease 10.9
41 sickle cell - hemoglobin d disease 10.9
42 neuropathy, hereditary sensory and autonomic, type iii 10.8
43 autonomic nervous system disease 10.8
44 hereditary late-onset parkinson disease 10.8 LRRK2 SNCA
45 microcephaly, autosomal dominant 10.8
46 short stature, idiopathic, x-linked 10.8
47 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.8
48 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.8
49 microcephaly 5, primary, autosomal recessive 10.8
50 lissencephaly 4 10.8

Graphical network of the top 20 diseases related to Multiple System Atrophy 1:



Diseases related to Multiple System Atrophy 1

Symptoms & Phenotypes for Multiple System Atrophy 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
tremor
hyperreflexia
rigidity
bradykinesia
more
Cardiovascular Vascular:
orthostatic hypotension

Genitourinary External Genitalia Male:
erectile dysfunction

Genitourinary Bladder:
urinary incontinence
urinary urgency
incomplete bladder emptying

Head And Neck Eyes:
gaze-evoked nystagmus
extraocular movement difficulties

Skin Nails Hair Skin:
decreased sweating


Clinical features from OMIM:

146500

Human phenotypes related to Multiple System Atrophy 1:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
3 dysautonomia 59 32 Frequent (79-30%) HP:0002459
4 abnormal pyramidal signs 59 32 frequent (33%) Frequent (79-30%) HP:0007256
5 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
6 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
7 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
8 postural tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002174
9 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
10 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
11 stridor 59 32 frequent (33%) Frequent (79-30%) HP:0010307
12 orthostatic hypotension due to autonomic dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0004926
13 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
14 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
15 abnormal brain fdg positron emission tomography 59 32 frequent (33%) Frequent (79-30%) HP:0012658
16 raynaud phenomenon 59 32 frequent (33%) Frequent (79-30%) HP:0030880
17 orofacial dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002310
18 gaze-evoked nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000640
19 resting tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002322
20 central sleep apnea 59 32 frequent (33%) Frequent (79-30%) HP:0010536
21 abnormal rapid eye movement sleep 59 32 frequent (33%) Frequent (79-30%) HP:0002494
22 axial dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002530
23 autonomic bladder dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0005341
24 autonomic erectile dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0008652
25 orthostatic syncope 59 32 frequent (33%) Frequent (79-30%) HP:0012670
26 female anorgasmia 59 32 frequent (33%) Frequent (79-30%) HP:0030015
27 camptocormia 59 32 frequent (33%) Frequent (79-30%) HP:0100595
28 ptosis 32 HP:0000508
29 ataxia 32 HP:0001251
30 tremor 32 HP:0001337
31 hyperreflexia 32 HP:0001347
32 cognitive impairment 32 occasional (7.5%) HP:0100543
33 skeletal muscle atrophy 32 HP:0003202
34 hypohidrosis 32 HP:0000966
35 babinski sign 32 HP:0003487
36 neurodegeneration 32 HP:0002180
37 urinary incontinence 32 HP:0000020
38 anhidrosis 32 HP:0000970
39 impotence 32 HP:0000802
40 orthostatic hypotension 32 HP:0001278
41 olivopontocerebellar atrophy 32 HP:0002542
42 urinary urgency 32 HP:0000012
43 iris atrophy 32 HP:0001089

MGI Mouse Phenotypes related to Multiple System Atrophy 1:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 ATXN1 DBH DRD2 GFAP LRRK2 MAPT
2 homeostasis/metabolism MP:0005376 10.28 ATXN1 DBH DRD2 GFAP GLUD1 LRRK2
3 growth/size/body region MP:0005378 10.27 ATXN1 DBH DRD2 GFAP TH GLUD1
4 mortality/aging MP:0010768 10.21 ATXN1 COQ2 DBH DRD2 GFAP LRRK2
5 cellular MP:0005384 10.18 DRD2 GFAP LRRK2 MAPT MBP PRKN
6 nervous system MP:0003631 10.13 PRKN SLC6A3 SNCA SNCB SQSTM1 TH
7 cardiovascular system MP:0005385 10.1 MAPT PRKN SNCA TH DBH DRD2
8 integument MP:0010771 10.06 SLC6A3 SNCA SQSTM1 TH DBH DRD2
9 normal MP:0002873 9.9 SNCB TH DBH DRD2 GFAP LRRK2
10 no phenotypic analysis MP:0003012 9.8 DRD2 LRRK2 MAPT PRKN SNCA SNCB
11 skeleton MP:0005390 9.65 ATXN1 COQ2 DBH DRD2 LRRK2 PRKN
12 taste/olfaction MP:0005394 8.92 DRD2 MAPT SLC6A3 SNCA

Drugs & Therapeutics for Multiple System Atrophy 1

Drugs for Multiple System Atrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 196)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4 51-84-3 187
2
Midodrine Approved Phase 4,Phase 1 133163-28-7, 42794-76-3 4195
3
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 23651-95-8 443940
4 abobotulinumtoxinA Phase 4
5 Botulinum Toxins Phase 4
6 Botulinum Toxins, Type A Phase 4
7 Cholinergic Agents Phase 4,Phase 2,Phase 1
8 Neuromuscular Agents Phase 4
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
10 onabotulinumtoxinA Phase 4
11 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Adrenergic Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
13 Adrenergic Agonists Phase 4,Phase 2,Phase 1,Not Applicable
14 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 1
15 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
16 Vasoconstrictor Agents Phase 4,Phase 2,Phase 1,Early Phase 1
17 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
19
Dopamine Approved Phase 3,Phase 1,Phase 2,Not Applicable 51-61-6, 62-31-7 681
20
Riluzole Approved, Investigational Phase 3,Phase 2 1744-22-5 5070
21
Rifampicin Approved Phase 3 13292-46-1 5458213 5381226
22
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
23
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
24
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
25
Epigallocatechin gallate Investigational Phase 3 989-51-5 65064
26 Antioxidants Phase 3,Phase 2,Not Applicable
27 Neuroprotective Agents Phase 3,Phase 2
28 Protective Agents Phase 3,Phase 2,Not Applicable
29 Anti-Bacterial Agents Phase 3
30 Anti-Infective Agents Phase 3
31 Dopamine Agents Phase 3,Phase 1,Phase 2,Not Applicable
32 Anticonvulsants Phase 3,Phase 2
33 Excitatory Amino Acid Antagonists Phase 3,Phase 2
34 Excitatory Amino Acids Phase 3,Phase 2
35 Antibiotics, Antitubercular Phase 3
36 Antitubercular Agents Phase 3
37 Cytochrome P-450 CYP3A Inducers Phase 3
38 Dermatologic Agents Phase 3
39 Isoniazid, pyrazinamide, rifampin drug combination Phase 3
40 Micronutrients Phase 3
41 Nucleic Acid Synthesis Inhibitors Phase 3
42 Photosensitizing Agents Phase 3
43 Trace Elements Phase 3
44 Vitamin B Complex Phase 3
45 Vitamins Phase 3
46
Epigallocatechin Experimental, Investigational, Nutraceutical Phase 3 970-74-1 72277
47 Folate Nutraceutical Phase 3
48 Vitamin B2 Nutraceutical Phase 3
49 Vitamin B9 Nutraceutical Phase 3
50
Fluoxetine Approved, Vet_approved Phase 2 54910-89-3 3386

Interventional clinical trials:

(show top 50) (show all 98)
# Name Status NCT ID Phase Drugs
1 Botulinum A Toxin in Patients With Parkinson's Disease Unknown status NCT00822913 Phase 4 Intravesical injection of Botulinum A toxin
2 A Study for Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4 Midodrine Hydrochloride
3 Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension Recruiting NCT02586623 Phase 4 Droxidopa capsules;Placebo capsules
4 A Phase IV Study in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4 midodrine hydrochloride (ProAmatine®)
5 Progression Rate of MSA Under EGCG Supplementation as Anti-Aggregation-Approach Completed NCT02008721 Phase 3 EGCG as putative neuroprotective agent;Placebo
6 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3 Minocyline
7 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3 Droxidopa;Placebo
8 A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa Completed NCT00782340 Phase 3 Placebo;Droxidopa
9 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00633880 Phase 3 Placebo;Droxidopa
10 Efficacy of L-threo DOPS on Orthostatic Hypotension Symptoms and Other Non-motor Symptoms in Patients With MSA Recruiting NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
11 Study of Rifampicin in Multiple System Atrophy Terminated NCT01287221 Phase 3 Rifampicin;placebo
12 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3 Riluzole
13 A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
14 Fipamezole in Neurogenic Orthostatic Hypotension Unknown status NCT00758849 Phase 2 Placebo;Fipamezole
15 Fluoxetine in Multiple System Atrophy Patients Completed NCT01146548 Phase 2 FLUOXETINE
16 Treatment of Multiple System Atrophy Using Intravenous Immunoglobulins Completed NCT00750867 Phase 2 intravenous immunoglobulin (IVIg)
17 Clinical Trial to Assess Efficacy, Safety, and Tolerability of Rasagiline Mesylate 1 mg in Patients With Multiple System Atrophy of the Parkinsonian Subtype (MSA-P) Completed NCT00977665 Phase 2 rasagiline mesylate;placebo
18 Treatment of Parkinson Disease and Multiple System Atrophy Using Intranasal Insulin. Completed NCT02064166 Phase 2 Intranasal Insulin
19 Trial of Autologous Mesenchymal Stem Cells in Patients With Multiple System Atrophy Completed NCT00911365 Phase 2
20 AZD3241 PET MSA Trial, Phase 2, Randomized,12 Week Safety and Tolerability Trial With PET in MSA Patients Completed NCT02388295 Phase 2 AZD3241;Placebo
21 The Differential Diagnosis of Parkinson's Disease and Parkinsonism by Positron-emission Tomography Completed NCT01824056 Phase 2 18F-FDG
22 Acetylcholinesterase Inhibition and Orthostatic Hypotension in SCI Completed NCT02307526 Phase 2 Pyridostigmine Bromide
23 Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
24 Norepinephrine Transporter Blockade, Autonomic Failure Recruiting NCT02796209 Phase 2 Atomexetine;Placebo
25 TD-9855 Phase 2 in Neurogenic Orthostatic Hypotension (nOH) Active, not recruiting NCT02705755 Phase 2 TD-9855;Placebo
26 Inosine 5'-Monophosphate to Raise of Serum Uric Acid Level in Patients With Multiple System Atrophy: a Multi-center, Randomized Controlled, Double Blind, Parallel Assigned Clinical Trial Not yet recruiting NCT03403309 Phase 2 1) Inosine 5'-monophosphate;Placebo
27 Establishing 18F-PBR06 PET Imaging as a Viable Pharmacodynamic Endpoint in MSA Not yet recruiting NCT03033680 Phase 1, Phase 2 [F-18]PBR06
28 Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism Not yet recruiting NCT03446807 Phase 2 Droxidopa;Placebo Oral Tablet
29 Lithium in Multiple System Atrophy Terminated NCT00997672 Phase 2 Lithium Carbonate;Placebo
30 Augmenting Effects of L-DOPS With Carbidopa and Entacapone Terminated NCT00547911 Phase 1, Phase 2 Droxidopa;Carbidopa;Entacapone
31 Efficacy of Therapeutic Interventions for Orthostatic Hypotension in Parkinson's Disease and Multiple System Atrophy Completed NCT00103597 Phase 1 Fludrocortisone;Domperidone
32 Study Assessing Safety and Therapeutic Activity of AFFITOPE® PD01A and PD03A in Patients With Early MSA Completed NCT02270489 Phase 1
33 Treatment of Supine Hypertension in Autonomic Failure Completed NCT00223717 Phase 1 Clonidine;Nitroglycerin transdermal;Dipyridamole/ Aspirin (Aggrenox);Desmopressin (DDAVP);Sildenafil;Nifedipine;Hydralazine;Hydrochlorothiazide;Placebo;Bosentan;Diltiazem;Eplerenone;guanfacine;captopril;carbidopa;losartan;metoprolol tartrate;nebivolol hydrochloride;prazosin hydrochloride;tamsulosin hydrochloride;aliskiren
34 The Autonomic Nervous System and Obesity Completed NCT00179023 Phase 1 Trimethaphan;Trimethaphan;Pseudoephedrine
35 Open Label Treatment With tDCS for Parkinson's and Related Disorders for Improvement of Speech, Gait and Mood Completed NCT02104401 Phase 1
36 Safety and Tolerability of CS10BR05 Inj. in Subjects With Multiple System Atrophy Recruiting NCT03265444 Phase 1
37 Reduction in Splanchnic Capacitance Contributes to Sympathetically Dependent Hypertension in Autonomic Recruiting NCT02726711 Phase 1 Trimethaphan;Placebo
38 Hemodynamic Mechanisms of Abdominal Compression in the Treatment of Orthostatic Hypotension in Autonomic Failure Recruiting NCT02429557 Phase 1 Placebo pill;midodrine
39 Effects of Midodrine and Droxidopa on Splanchnic Capacitance in Autonomic Failure Recruiting NCT02897063 Phase 1 Droxidopa;Midodrine;Placebo
40 Mesenchymal Stem Cell Therapy in Multiple System Atrophy Active, not recruiting NCT02315027 Phase 1
41 The Role of Endothelin in the Supine Hypertension of Autonomic Failure Enrolling by invitation NCT01119417 Phase 1 BQ123;BQ123;Bq123;BQ123;Saline
42 Contribution of Angiotensin II to Supine Hypertension in Autonomic Failure Terminated NCT01292694 Phase 1 Losartan;Captopril;Placebo
43 Cognitive and Behavioral Dysexecutive Syndrome in Multiple System Atrophy Unknown status NCT02185677
44 Evaluation of a Multimodal Neuroimaging Method for Diagnosis in Parkinsonian Syndromes Unknown status NCT02428816 Not Applicable
45 Biomarkers in Parkinsonian Syndromes Unknown status NCT02114242
46 Diagnostic and Prognostic Biomarkers in Parkinson Disease Unknown status NCT00653783
47 Parkinson's Disease, Diagnostic Observations (PADDO) Unknown status NCT01249768
48 PET/MR Imaging in Patients With Short and Long Standing Parkinson's Disease Unknown status NCT02801110
49 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 l-123 Ioflupane
50 Evaluation of the Subjective and Objective Painful Threshold in Multiple System Atrophy Pain and Multiple System Atrophy Completed NCT01577992 Not Applicable Levodopa test

Search NIH Clinical Center for Multiple System Atrophy 1

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Multiple System Atrophy 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Multiple System Atrophy 1:
Mesenchymal stem cells for multiple system atrophy
Embryonic/Adult Cultured Cells Related to Multiple System Atrophy 1:
Bone marrow-derived mesenchymal stem cells PMIDs: 19513327

Cochrane evidence based reviews: multiple system atrophy

Genetic Tests for Multiple System Atrophy 1

Genetic tests related to Multiple System Atrophy 1:

# Genetic test Affiliating Genes
1 Shy-Drager Syndrome 29 COQ2

Anatomical Context for Multiple System Atrophy 1

MalaCards organs/tissues related to Multiple System Atrophy 1:

41
Brain, Cerebellum, Testes, Eye, Heart, Spinal Cord, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Multiple System Atrophy 1:
# Tissue Anatomical CompartmentCell Relevance
1 Limb Pelvic Girdle Bone Marrow Stromal Cells Potential therapeutic candidate
2 Bone Bone Marrow Bone Marrow Stromal Cells Potential therapeutic candidate

Publications for Multiple System Atrophy 1

Articles related to Multiple System Atrophy 1:

(show top 50) (show all 905)
# Title Authors Year
1
Association analysis of SNP rs11868035 in SREBF1 with sporadic Parkinson's disease, sporadic amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population. ( 29128630 )
2018
2
Neurogenic bladder in progressive supranuclear palsy: A comparison with Parkinson's disease and multiple system atrophy. ( 29356135 )
2018
3
Progressive striatonigral degenerationA in a transgenic mouse model of multiple system atrophy: translational implications for interventional therapies. ( 29298733 )
2018
4
Altered Functional and Causal Connectivity of Cerebello-Cortical Circuits between Multiple System Atrophy (Parkinsonian Type) and Parkinson's Disease. ( 28848423 )
2017
5
Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles. ( 27866117 )
2017
6
Lack of benefit of acetyl-dl-leucine in patients with multiple system atrophy of the cerebellar type. ( 28716222 )
2017
7
Palliative care and its emerging role in Multiple System Atrophy and Progressive Supranuclear Palsy. ( 28341224 )
2017
8
Insulin resistance and exendin-4 treatment for multiple system atrophy. ( 28334990 )
2017
9
Perirhinal accumulation of neuronal alpha-synuclein in a multiple system atrophy patient with dementia. ( 28419566 )
2017
10
Relevance of non-specific MRI features in multiple system atrophy. ( 28527404 )
2017
11
Analysis of the prion protein gene in multiple system atrophy. ( 27793473 )
2017
12
Pre- and postganglionic vasomotor dysfunction causes distal limb coldness in multiple system atrophy. ( 28870566 )
2017
13
The Utility of Post-Void Residual Volume versus Sphincter Electromyography to Distinguish between Multiple System Atrophy and Parkinson's Disease. ( 28060892 )
2017
14
Multiple system atrophy: clinicopathological characteristics in Japanese patients. ( 28496050 )
2017
15
Recent advances in neuropathology, biomarkers and therapeutic approach of multiple system atrophy. ( 28860330 )
2017
16
Multiple System Atrophy: AnA Oligodendroglioneural Synucleinopathy. ( 28984582 )
2017
17
Nutritional Status and Changes in Body Weight in Patients with Multiple System Atrophy. ( 27894118 )
2017
18
Cytokine profiling in the prefrontal cortex of Parkinson's Disease and Multiple System Atrophy patients. ( 28732710 )
2017
19
Clinical Profile of Dysphagia in Patients with Parkinson's Disease, Progressive Supranuclear Palsy and Multiple System Atrophy. ( 28799303 )
2017
20
The many faces of autonomic failure in multiple system atrophy. ( 28090690 )
2017
21
Combination of alpha-synuclein immunotherapy with anti-inflammatory treatment in a transgenic mouse model of multiple system atrophy. ( 28057080 )
2017
22
Key themes and future prospects in translational multiple system atrophy research. ( 28867372 )
2017
23
Cognitive impairment in multiple system atrophy. ( 28671311 )
2017
24
Pathologic confirmation of retinal ganglion cell loss in multiple system atrophy. ( 28490649 )
2017
25
Depression and anxiety in multiple system atrophy. ( 28748633 )
2017
26
Non-motor multiple system atrophy associated with sudden death: pathological observations of autonomic nuclei. ( 28939940 )
2017
27
Usefulness of diffusion-tensor MRI in the diagnosis of Parkinson variant of multiple system atrophy and Parkinson's disease: a valuable tool to differentiate between them? ( 28318507 )
2017
28
Editorial Comment from Dr Sengoku to Case of possible multiple system atrophy with a characteristic imaging finding of open bladder neck during storage phase as an initial sign. ( 28940777 )
2017
29
Slowed Prosaccades and Increased Antisaccade Errors As a Potential Behavioral Biomarker of Multiple System Atrophy. ( 28676787 )
2017
30
Multiple system atrophy: insights into a rare and debilitating movement disorder. ( 28303913 )
2017
31
Pontine calcification in late stage cerebellar multiple system atrophy: a marker of synucleinopathy neurodegeneration? ( 29236831 )
2017
32
Critical appraisal of clinical trials in multiple system atrophy: Toward better quality. ( 28782838 )
2017
33
Author response: A genome-wide association study in multiple system atrophy. ( 28348123 )
2017
34
Changes in the cell population in brain white matter in multiple system atrophy. ( 28394027 )
2017
35
Validity and reliability of a pilot scale for assessment of multiple system atrophy symptoms. ( 28680652 )
2017
36
Distinct patterns of imprecise consonant articulation among Parkinson's disease, progressive supranuclear palsy and multiple system atrophy. ( 27894006 )
2017
37
Is pure autonomic failure an early marker for Parkinson disease, dementia with Lewy bodies, and multiple system atrophy? And other updates on recent autonomic research. ( 28255741 )
2017
38
Case of possible multiple system atrophy with a characteristic imaging finding of open bladder neck during storage phase as an initial sign. ( 28809053 )
2017
39
Letter re: A genome-wide association study in multiple system atrophy. ( 28348122 )
2017
40
Serum uric acid level is linked to the disease progression rate in male patients with multiple system atrophy. ( 28432997 )
2017
41
Association analysis of polymorphisms in VMAT2 and TMEM106B genes for Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy. ( 28477711 )
2017
42
Sequence TMEM230 gene in patients with multiple system atrophy in a southwest Chinese population: A pilot study. ( 28320143 )
2017
43
Anesthetic considerations in a patient with multiple system atrophy-cerebellar for lower limb surgery. ( 28757850 )
2017
44
Early strong intrathecal inflammation in cerebellar type multiple system atrophy by cerebrospinal fluid cytokine/chemokine profiles: a case control study. ( 28438224 )
2017
45
Multiple System Atrophy - State of the Art. ( 28378233 )
2017
46
Feedback Facility-assisted Balance Training in a Patient with Multiple System Atrophy: A Case Report. ( 28943458 )
2017
47
Natural course and potential prognostic factors for sleep-disordered breathing in multiple system atrophy. ( 28522081 )
2017
48
The Neuropsychology (Broadly Conceived) of Multiple System Atrophy, Progressive Supranuclear Palsy, and Corticobasal Degeneration. ( 28961692 )
2017
49
Multiple System Atrophy: Many Lessons from the Transcriptome. ( 28770651 )
2017
50
Reduced orexin immunoreactivity in Perry syndrome and multiple system atrophy. ( 28651750 )
2017

Variations for Multiple System Atrophy 1

UniProtKB/Swiss-Prot genetic disease variations for Multiple System Atrophy 1:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 COQ2 p.Phe29Leu VAR_070239
2 COQ2 p.Pro49His VAR_070240
3 COQ2 p.Ser57Thr VAR_070241
4 COQ2 p.Met78Val VAR_070243
5 COQ2 p.Ile97Thr VAR_070244
6 COQ2 p.Pro107Ser VAR_070245
7 COQ2 p.Ser113Phe VAR_070246
8 COQ2 p.Thr267Ala VAR_070247
9 COQ2 p.Ser297Cys VAR_070248
10 COQ2 p.Arg337Gln VAR_070250
11 COQ2 p.Val343Ala VAR_070251

ClinVar genetic disease variations for Multiple System Atrophy 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ2 NM_015697.7(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh37 Chromosome 4, 84205686: 84205686
2 COQ2 NM_015697.7(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh38 Chromosome 4, 83284533: 83284533
3 COQ2 NM_015697.7(COQ2): c.1028T> C (p.Val343Ala) single nucleotide variant risk factor rs397514727 GRCh37 Chromosome 4, 84188812: 84188812
4 COQ2 NM_015697.7(COQ2): c.1028T> C (p.Val343Ala) single nucleotide variant risk factor rs397514727 GRCh38 Chromosome 4, 83267659: 83267659
5 COQ2 NM_015697.7(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh37 Chromosome 4, 84185459: 84185459
6 COQ2 NM_015697.7(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh38 Chromosome 4, 83264306: 83264306
7 COQ2 NM_015697.7(COQ2): c.1160G> A (p.Arg387Gln) single nucleotide variant risk factor rs763562410 GRCh37 Chromosome 4, 84185458: 84185458
8 COQ2 NM_015697.7(COQ2): c.1160G> A (p.Arg387Gln) single nucleotide variant risk factor rs763562410 GRCh38 Chromosome 4, 83264305: 83264305

Copy number variations for Multiple System Atrophy 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 124182 19 1 6900000 Loss Multiple system atrophy

Expression for Multiple System Atrophy 1

Search GEO for disease gene expression data for Multiple System Atrophy 1.

Pathways for Multiple System Atrophy 1

Pathways related to Multiple System Atrophy 1 according to KEGG:

37
# Name Kegg Source Accession
1 Ubiquinone and other terpenoid-quinone biosynthesis hsa00130

GO Terms for Multiple System Atrophy 1

Cellular components related to Multiple System Atrophy 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.92 COQ2 GLUD1 LRRK2 MAPT PRKN SNCA
2 cytoplasmic vesicle GO:0031410 9.89 DBH DRD2 LRRK2 SQSTM1 TH
3 dendrite GO:0030425 9.86 DRD2 LRRK2 MAPT TH
4 lysosome GO:0005764 9.84 GFAP LRRK2 SNCA SQSTM1
5 neuron projection GO:0043005 9.77 LRRK2 MAPT PRKN SLC6A3 TH
6 growth cone GO:0030426 9.72 LRRK2 MAPT SNCA
7 synaptic vesicle GO:0008021 9.7 LRRK2 SNCA TH
8 perikaryon GO:0043204 9.69 DRD2 LRRK2 TH
9 neuronal cell body GO:0043025 9.63 LRRK2 MAPT MBP SLC6A3 SNCA TH
10 terminal bouton GO:0043195 9.61 LRRK2 SNCA TH
11 autolysosome GO:0044754 9.46 LRRK2 SQSTM1
12 axon GO:0030424 9.43 DRD2 LRRK2 MAPT SLC6A3 SNCA TH
13 Lewy body GO:0097413 9.4 PRKN SQSTM1
14 amphisome GO:0044753 9.26 LRRK2 SQSTM1
15 inclusion body GO:0016234 8.92 LRRK2 SNCA SNCB SQSTM1
16 cytoplasm GO:0005737 10.26 ATXN1 DBH GFAP GLUD1 LRRK2 MAPT

Biological processes related to Multiple System Atrophy 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.97 DRD2 SLC6A3 SNCA TH
2 chemical synaptic transmission GO:0007268 9.95 DBH MBP SNCA SNCB
3 negative regulation of neuron apoptotic process GO:0043524 9.88 PRKN SNCA SNCB
4 response to ethanol GO:0045471 9.86 DRD2 SLC6A3 TH
5 autophagy GO:0006914 9.85 DRD2 LRRK2 PRKN SQSTM1
6 mitochondrion organization GO:0007005 9.83 GLUD1 LRRK2 PRKN
7 excitatory postsynaptic potential GO:0060079 9.81 DRD2 LRRK2 SNCA
8 regulation of autophagy GO:0010506 9.78 LRRK2 MAPT PRKN
9 learning GO:0007612 9.77 ATXN1 PRKN TH
10 negative regulation of neuron death GO:1901215 9.74 LRRK2 PRKN SNCA
11 memory GO:0007613 9.73 ATXN1 DBH MAPT TH
12 negative regulation of insulin secretion GO:0046676 9.72 DRD2 PRKN
13 regulation of reactive oxygen species metabolic process GO:2000377 9.71 PRKN SNCA
14 behavioral response to cocaine GO:0048148 9.71 DRD2 SNCA
15 regulation of long-term neuronal synaptic plasticity GO:0048169 9.71 DRD2 SNCA
16 regulation of neuron death GO:1901214 9.71 LRRK2 SNCA
17 synapse organization GO:0050808 9.71 MAPT SNCA SNCB
18 negative regulation of protein phosphorylation GO:0001933 9.71 DRD2 LRRK2 PRKN SNCA
19 regulation of neurotransmitter secretion GO:0046928 9.7 PRKN SNCA
20 response to metal ion GO:0010038 9.7 SNCB TH
21 response to iron ion GO:0010039 9.7 DRD2 SLC6A3
22 positive regulation of long-term synaptic potentiation GO:1900273 9.7 DRD2 SQSTM1
23 response to nicotine GO:0035094 9.7 DRD2 SLC6A3 TH
24 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.69 LRRK2 PRKN
25 regulation of mitochondrion organization GO:0010821 9.69 PRKN SQSTM1
26 behavioral response to ethanol GO:0048149 9.69 DBH DRD2
27 startle response GO:0001964 9.68 DRD2 PRKN
28 microglial cell activation GO:0001774 9.68 MAPT SNCA
29 axon development GO:0061564 9.68 GFAP MAPT
30 neurotransmitter biosynthetic process GO:0042136 9.67 SLC6A3 TH
31 cellular response to dopamine GO:1903351 9.67 LRRK2 PRKN
32 response to cocaine GO:0042220 9.67 DRD2 SLC6A3 SNCA
33 supramolecular fiber organization GO:0097435 9.66 MAPT SNCA
34 prepulse inhibition GO:0060134 9.66 DRD2 SLC6A3
35 striatum development GO:0021756 9.65 DRD2 LRRK2
36 response to amphetamine GO:0001975 9.65 DBH DRD2 TH
37 regulation of dopamine metabolic process GO:0042053 9.64 PRKN SLC6A3
38 adenohypophysis development GO:0021984 9.64 DRD2 SLC6A3
39 dopamine catabolic process GO:0042420 9.63 DBH SLC6A3
40 regulation of dopamine secretion GO:0014059 9.63 DRD2 PRKN SNCA
41 intracellular distribution of mitochondria GO:0048312 9.62 LRRK2 MAPT
42 regulation of mitochondrial fission GO:0090140 9.62 LRRK2 MAPT
43 regulation of locomotion GO:0040012 9.61 LRRK2 SNCA
44 mitophagy GO:0000423 9.59 PRKN SQSTM1
45 catecholamine biosynthetic process GO:0042423 9.58 DBH TH
46 norepinephrine biosynthetic process GO:0042421 9.58 DBH TH
47 protein localization to mitochondrion GO:0070585 9.56 LRRK2 PRKN
48 locomotory behavior GO:0007626 9.55 DBH DRD2 PRKN SLC6A3 TH
49 dopamine biosynthetic process GO:0042416 9.54 SLC6A3 SNCA TH
50 regulation of synaptic vesicle transport GO:1902803 9.51 LRRK2 PRKN

Molecular functions related to Multiple System Atrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.55 MAPT PRKN SNCA SQSTM1 TH
2 ionotropic glutamate receptor binding GO:0035255 9.43 DRD2 SQSTM1
3 tubulin binding GO:0015631 9.43 LRRK2 MAPT PRKN
4 ferrous iron binding GO:0008198 9.4 SNCA TH
5 phospholipase binding GO:0043274 9.37 PRKN SNCA
6 cuprous ion binding GO:1903136 9.32 SNCA SNCB
7 identical protein binding GO:0042802 9.28 ATXN1 DRD2 GFAP GLUD1 LRRK2 MAPT
8 dopamine binding GO:0035240 9.13 DRD2 SLC6A3 TH

Sources for Multiple System Atrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....