MSA1
MCID: MLT157
MIFTS: 73

Multiple System Atrophy 1 (MSA1)

Categories: Blood diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Multiple System Atrophy 1

MalaCards integrated aliases for Multiple System Atrophy 1:

Name: Multiple System Atrophy 1 58 76 39
Multiple System Atrophy 58 39 12 77 54 26 55 60 38 56 45 15 17 74
Shy-Drager Syndrome 12 77 26 55 30 6 45 74
Msa 54 26 60
Sporadic Olivopontocerebellar Atrophy 26 74
Msa1 58 76
Progressive Autonomic Failure with Multiple System Atrophy 26
Multiple System Atrophy 1, Susceptibility to 58
Multiple System Atrophy, Susceptibility to 58
Msa1, Susceptibility to 58
Multisystem Atrophy 60
Opca 26
Sds 26

Characteristics:

Orphanet epidemiological data:

60
multiple system atrophy
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Worldwide),1-5/10000 (Japan); Age of onset: Adult;

OMIM:

58
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:

33

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Multiple System Atrophy 1

NIH Rare Diseases : 54 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 striatonigral degeneration and pure autonomic failure. 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 Droxidopa have been mentioned in the context of this disorder. Affiliated tissues include Limb and Bone, and related phenotypes are dysarthria and constipation

Genetics Home Reference : 26 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.

OMIM : 58 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 (GCIs) 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)

NINDS : 55 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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 419)
# Related Disease Score Top Affiliating Genes
1 striatonigral degeneration 32.6 DRD2 SLC6A3 SNCA
2 pure autonomic failure 32.3 DBH SNCA TH
3 synucleinopathy 31.4 LRRK2 MAPT PRKN SLC6A3 SNCA SNCB
4 dementia, lewy body 31.3 LRRK2 MAPT PRKN SLC6A3 SNCA SNCB
5 supranuclear palsy, progressive, 1 30.7 LRRK2 MAPT PRKN SLC6A3 SNCA TH
6 rem sleep behavior disorder 30.5 LRRK2 SLC6A3 SNCA
7 tremor 30.4 LRRK2 MAPT PRKN SNCA
8 machado-joseph disease 30.2 ATXN1 SLC6A3 SNCA
9 essential tremor 30.2 LRRK2 PRKN SLC6A3 SNCA
10 aceruloplasminemia 30.2 ATXN1 COQ2 GFAP SNCA
11 perry syndrome 29.9 SLC6A3 SNCA TH
12 dystonia 29.9 DRD2 PRKN SLC6A3 SQSTM1 TH
13 stuttering 29.8 DBH DRD2 SLC6A3
14 pick disease of brain 29.7 MAPT SNCA SQSTM1
15 frontotemporal dementia 29.7 LRRK2 MAPT SNCA SQSTM1
16 cocaine dependence 29.6 DBH DRD2 SLC6A3
17 motor neuron disease 29.5 MAPT SNCA SQSTM1
18 parkinson disease, late-onset 29.5 DBH DRD2 LRRK2 MAPT PRKN SLC6A3
19 spinocerebellar degeneration 29.2 ATXN1 GLUD1
20 brain injury 29.1 DRD2 GFAP MAPT MBP
21 dementia 29.0 LRRK2 MAPT PRKN SLC6A3 SNCA SNCB
22 movement disease 28.9 DRD2 LRRK2 MAPT PRKN SLC6A3 SNCA
23 amyotrophic lateral sclerosis 1 28.8 GFAP MAPT SNCA SQSTM1 TH
24 alzheimer disease 28.4 GFAP MAPT SERPINA3 SNCA SNCB SQSTM1
25 multiple system atrophy with orthostatic hypotension 12.4
26 multiple system atrophy, cerebellar type 12.4
27 multiple system atrophy, parkinsonian type 12.3
28 salla disease 12.1
29 shwachman-diamond syndrome 1 12.0
30 semantic dementia 11.6
31 olivopontocerebellar atrophy 11.5
32 dysautonomia 11.4
33 spinocerebellar ataxia 7 11.4
34 myopathy, lactic acidosis, and sideroblastic anemia 1 11.4
35 trichohepatoenteric syndrome 1 11.4
36 primary orthostatic hypotension 11.3
37 spinocerebellar ataxia, x-linked 1 11.3
38 deafness, autosomal dominant 69 11.2
39 olivopontocerebellar atrophy v 11.2
40 microcephaly 1, primary, autosomal recessive 11.1
41 desbuquois dysplasia 1 11.1
42 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.1
43 macrocephaly/autism syndrome 11.1
44 sandhoff disease 11.1
45 sickle cell - hemoglobin d disease 11.1
46 spinal muscular atrophy 11.1
47 olivopontocerebellar atrophy ii, autosomal recessive 11.0
48 neuropathy, hereditary sensory and autonomic, type iii 11.0
49 autonomic nervous system disease 11.0
50 microcephaly, autosomal dominant 10.9

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

Human phenotypes related to Multiple System Atrophy 1:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
2 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
3 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
4 rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0002063
5 progressive cerebellar ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002073
6 postural tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002174
7 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
8 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359
9 stridor 60 33 frequent (33%) Frequent (79-30%) HP:0010307
10 orthostatic hypotension due to autonomic dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0004926
11 parkinsonism 60 33 frequent (33%) Frequent (79-30%) HP:0001300
12 raynaud phenomenon 60 33 frequent (33%) Frequent (79-30%) HP:0030880
13 postural instability 60 33 frequent (33%) Frequent (79-30%) HP:0002172
14 abnormal brain fdg positron emission tomography 60 33 frequent (33%) Frequent (79-30%) HP:0012658
15 orofacial dyskinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002310
16 gaze-evoked nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000640
17 resting tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002322
18 central sleep apnea 60 33 frequent (33%) Frequent (79-30%) HP:0010536
19 abnormal rapid eye movement sleep 60 33 frequent (33%) Frequent (79-30%) HP:0002494
20 axial dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0002530
21 autonomic bladder dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0005341
22 autonomic erectile dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0008652
23 orthostatic syncope 60 33 frequent (33%) Frequent (79-30%) HP:0012670
24 female anorgasmia 60 33 frequent (33%) Frequent (79-30%) HP:0030015
25 camptocormia 60 33 frequent (33%) Frequent (79-30%) HP:0100595
26 abnormal pyramidal sign 33 frequent (33%) HP:0007256
27 cognitive impairment 33 occasional (7.5%) HP:0100543
28 ptosis 33 HP:0000508
29 ataxia 33 HP:0001251
30 tremor 33 HP:0001337
31 hyperreflexia 33 HP:0001347
32 dysautonomia 60 Frequent (79-30%)
33 abnormal pyramidal signs 60 Frequent (79-30%)
34 skeletal muscle atrophy 33 HP:0003202
35 hypohidrosis 33 HP:0000966
36 babinski sign 33 HP:0003487
37 neurodegeneration 33 HP:0002180
38 urinary urgency 33 HP:0000012
39 urinary incontinence 33 HP:0000020
40 anhidrosis 33 HP:0000970
41 impotence 33 HP:0000802
42 orthostatic hypotension 33 HP:0001278
43 olivopontocerebellar atrophy 33 HP:0002542
44 iris atrophy 33 HP:0001089

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
tremor
hyperreflexia
rigidity
bradykinesia
more
Cardiovascular Vascular:
orthostatic hypotension

Genitourinary External Genitalia Male:
erectile dysfunction

Genitourinary Bladder:
urinary urgency
urinary incontinence
incomplete bladder emptying

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

Skin Nails Hair Skin:
decreased sweating

Clinical features from OMIM:

146500

MGI Mouse Phenotypes related to Multiple System Atrophy 1:

47 (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 GLUD1 MAPT
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 ATXN1 DBH DRD2 GFAP LRRK2 MAPT
7 cardiovascular system MP:0005385 10.1 DBH DRD2 GFAP LRRK2 MAPT PRKN
8 integument MP:0010771 10.06 DBH DRD2 LRRK2 MAPT PRKN SLC6A3
9 normal MP:0002873 9.9 DBH DRD2 GFAP LRRK2 MAPT MBP
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 212)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Droxidopa Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 23651-95-8 443940
3
Midodrine Approved Phase 4,Phase 1 133163-28-7, 42794-76-3 4195
4 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
5 abobotulinumtoxinA Phase 4
6 Botulinum Toxins Phase 4
7 Neuromuscular Agents Phase 4
8 Acetylcholine Release Inhibitors Phase 4
9 Cholinergic Agents Phase 4,Phase 2,Phase 1
10 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
11 Botulinum Toxins, Type A Phase 4
12 Antiparkinson Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
14 Adrenergic Agonists Phase 4,Phase 2,Phase 1,Not Applicable
15 Vasoconstrictor Agents Phase 4,Phase 2,Phase 1,Early Phase 1
16 Sympathomimetics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Adrenergic Agents Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable
18 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 1
19
Rifampicin Approved Phase 3 13292-46-1 5381226 5458213
20
Riluzole Approved, Investigational Phase 3,Phase 2 1744-22-5 5070
21
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
22
Dopamine Approved Phase 3,Phase 1,Phase 2,Not Applicable 62-31-7, 51-61-6 681
23
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
24
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
25
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
26
Epigallocatechin gallate Investigational Phase 3 989-51-5 65064
27
Epigallocatechin Experimental, Investigational Phase 3 970-74-1 72277
28 Nutrients Phase 3
29 Vitamin B Complex Phase 3
30 Vitamin B2 Phase 3
31 Anti-Infective Agents Phase 3,Phase 2
32 Trace Elements Phase 3
33 Vitamins Phase 3
34 Anti-Bacterial Agents Phase 3,Phase 2
35 Folate Phase 3
36 Antitubercular Agents Phase 3
37 Vitamin B9 Phase 3
38 Nucleic Acid Synthesis Inhibitors Phase 3
39 Antibiotics, Antitubercular Phase 3,Phase 2
40 Cytochrome P-450 CYP3A Inducers Phase 3
41 Micronutrients Phase 3
42 Dermatologic Agents Phase 3
43 Isoniazid, pyrazinamide, rifampin drug combination Phase 3
44 Photosensitizing Agents Phase 3
45 Protective Agents Phase 3,Phase 2,Not Applicable
46 Neuroprotective Agents Phase 3,Phase 2
47 Antioxidants Phase 3,Phase 2,Not Applicable
48 Excitatory Amino Acid Antagonists Phase 3,Phase 2
49 Excitatory Amino Acids Phase 3,Phase 2
50 Anticonvulsants Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 110)
# 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 Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension Recruiting NCT02586623 Phase 4 Droxidopa capsules;Placebo capsules
3 A Study for Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4 Midodrine Hydrochloride
4 A Phase IV Study in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4 midodrine hydrochloride (ProAmatine®)
5 Efficacy of L-threo DOPS on Orthostatic Hypotension Symptoms and Other Non-motor Symptoms in Patients With MSA Unknown status NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
6 Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy Recruiting NCT03901638 Phase 3 Tllsh2910;Placebo
7 Study of Rifampicin in Multiple System Atrophy Terminated NCT01287221 Phase 3 Rifampicin;placebo
8 Progression Rate of MSA Under EGCG Supplementation as Anti-Aggregation-Approach Completed NCT02008721 Phase 3 EGCG as putative neuroprotective agent;Placebo
9 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3 Riluzole
10 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3 Minocyline
11 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3 Droxidopa;Placebo
12 A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa Completed NCT00782340 Phase 3 Placebo;Droxidopa
13 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00633880 Phase 3 Placebo;Droxidopa
14 A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
15 Clinical Effect of TD-9855 for Treating snOH in Subjects With Primary Autonomic Failure Recruiting NCT03750552 Phase 3 TD-9855;Placebo
16 Clinical Effect Durability of TD-9855 for Treating snOH in Subjects With Primary Autonomic Failure Recruiting NCT03829657 Phase 3 TD-9855;Placebo
17 Fipamezole in Neurogenic Orthostatic Hypotension Unknown status NCT00758849 Phase 2 Placebo;Fipamezole
18 Establishing 18F-PBR06 PET Imaging as a Viable Pharmacodynamic Endpoint in MSA Unknown status NCT03033680 Phase 1, Phase 2 [F-18]PBR06
19 A Futility Trial of Sirolimus in Multiple System Atrophy Recruiting NCT03589976 Phase 2 Sirolimus 2 MG
20 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 Active, not recruiting NCT03403309 Phase 2 1) Inosine 5'-monophosphate;Placebo
21 Fluoxetine in Multiple System Atrophy Patients Completed NCT01146548 Phase 2 FLUOXETINE
22 Treatment of Multiple System Atrophy Using Intravenous Immunoglobulins Completed NCT00750867 Phase 2 intravenous immunoglobulin (IVIg)
23 Lithium in Multiple System Atrophy Terminated NCT00997672 Phase 2 Lithium Carbonate;Placebo
24 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
25 Trial of Autologous Mesenchymal Stem Cells in Patients With Multiple System Atrophy Completed NCT00911365 Phase 2
26 Treatment of Parkinson Disease and Multiple System Atrophy Using Intranasal Insulin. Completed NCT02064166 Phase 2 Intranasal Insulin
27 AZD3241 PET MSA Trial, Phase 2, Randomized,12 Week Safety and Tolerability Trial With PET in MSA Patients Completed NCT02388295 Phase 2 AZD3241;Placebo
28 Safinamide for Multiple System Atrophy (MSA) Not yet recruiting NCT03753763 Phase 2 Safinamide Methanesulfonate;Safinamide Methanesulfonate matching placebo
29 Norepinephrine Transporter Blockade, Autonomic Failure Recruiting NCT02796209 Phase 2 Atomexetine;Placebo
30 Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism Not yet recruiting NCT03446807 Phase 2 Droxidopa;Placebo Oral Tablet
31 Augmenting Effects of L-DOPS With Carbidopa and Entacapone Terminated NCT00547911 Phase 1, Phase 2 Droxidopa;Carbidopa;Entacapone
32 The Differential Diagnosis of Parkinson's Disease and Parkinsonism by Positron-emission Tomography Completed NCT01824056 Phase 2 18F-FDG
33 Acetylcholinesterase Inhibition and Orthostatic Hypotension in SCI Completed NCT02307526 Phase 2 Pyridostigmine Bromide
34 TD-9855 Phase 2 in Neurogenic Orthostatic Hypotension (nOH) Completed NCT02705755 Phase 2 TD-9855;Placebo
35 Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
36 Safety and Tolerability of CS10BR05 Inj. in Subjects With Multiple System Atrophy Recruiting NCT03265444 Phase 1
37 Efficacy of Therapeutic Interventions for Orthostatic Hypotension in Parkinson's Disease and Multiple System Atrophy Completed NCT00103597 Phase 1 Fludrocortisone;Domperidone
38 Mesenchymal Stem Cell Therapy in Multiple System Atrophy Active, not recruiting NCT02315027 Phase 1
39 Study Assessing Safety and Therapeutic Activity of AFFITOPE® PD01A and PD03A in Patients With Early MSA Completed NCT02270489 Phase 1
40 The Role of Endothelin in the Supine Hypertension of Autonomic Failure Enrolling by invitation NCT01119417 Phase 1 BQ123;BQ123;Bq123;BQ123;Saline
41 Contribution of Angiotensin II to Supine Hypertension in Autonomic Failure Terminated NCT01292694 Phase 1 Losartan;Captopril;Placebo
42 Reduction in Splanchnic Capacitance Contributes to Sympathetically Dependent Hypertension in Autonomic Recruiting NCT02726711 Phase 1 Trimethaphan;Placebo
43 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
44 Hemodynamic Mechanisms of Abdominal Compression in the Treatment of Orthostatic Hypotension in Autonomic Failure Recruiting NCT02429557 Phase 1 Placebo pill;midodrine
45 The Autonomic Nervous System and Obesity Completed NCT00179023 Phase 1 Trimethaphan;Trimethaphan;Pseudoephedrine
46 Open Label Treatment With tDCS for Parkinson's and Related Disorders for Improvement of Speech, Gait and Mood Completed NCT02104401 Phase 1
47 Effects of Midodrine and Droxidopa on Splanchnic Capacitance in Autonomic Failure Recruiting NCT02897063 Phase 1 Droxidopa;Midodrine;Placebo
48 Evaluation of a Multimodal Neuroimaging Method for Diagnosis in Parkinsonian Syndromes Unknown status NCT02428816 Not Applicable
49 Diagnostic and Prognostic Biomarkers in Parkinson Disease Unknown status NCT00653783
50 Parkinson's Disease, Diagnostic Observations (PADDO) Unknown status NCT01249768

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 30

Anatomical Context for Multiple System Atrophy 1

MalaCards organs/tissues related to Multiple System Atrophy 1:

42
Brain, Testes, Cerebellum, 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 1761)
# Title Authors Year
1
Electrophysiological and clinical assessment of dysautonomia in multiple system atrophy (MSA) and progressive supranuclear palsy (PSP): a comparative study. ( 30620042 )
2019
2
Progression of Oropharyngeal Dysphagia in Patients with Multiple System Atrophy. ( 30852647 )
2019
3
The 'Hot Cross Bun' Sign Is Not Always Multiple System Atrophy: Etiologies of 11 Cases. ( 30563313 )
2019
4
Similarities and differences in cerebellar grey matter volume and disrupted functional connectivity in idiopathic Parkinson's disease and multiple system atrophy. ( 30590063 )
2019
5
Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy. ( 30613928 )
2019
6
Differentiation Between Multiple System Atrophy and Other Spinocerebellar Degenerations Using Diffusion Kurtosis Imaging. ( 30658931 )
2019
7
Multiple system atrophy prions retain strain specificity after serial propagation in two different Tg(SNCA*A53T) mouse lines. ( 30690664 )
2019
8
Non-aneurysmal Subarachnoid Hemorrhaging: A Rare Cause of Death in a Patient with Multiple System Atrophy. ( 30713290 )
2019
9
Wide distribution of alpha-synuclein oligomers in multiple system atrophy brain detected by proximity ligation. ( 30721406 )
2019
10
Widespread microglial activation in multiple system atrophy. ( 30726574 )
2019
11
Dissecting α-synuclein inclusion pathology diversity in multiple system atrophy: implications for the prion-like transmission hypothesis. ( 30737468 )
2019
12
Frontal lobe function, behavioral changes and quality of life in patients with multiple system atrophy. ( 30741706 )
2019
13
Dopamine transporter imaging for the diagnosis of multiple system atrophy cerebellar type. ( 30745212 )
2019
14
Cerebellar resting-state functional connectivity in Parkinson's disease and multiple system atrophy: Characterization of abnormalities and potential for differential diagnosis at the single-patient level. ( 30785051 )
2019
15
Early distinction of Parkinson-variant multiple system atrophy from Parkinson's disease. ( 30788854 )
2019
16
Do multiple system atrophy and Parkinson's disease show distinct patterns of volumetric alterations across hippocampal subfields? An exploratory study. ( 30796577 )
2019
17
A Comparison of Pain between Parkinson's Disease and Multiple System Atrophy: A Clinical Cross-Sectional Survey. ( 30805069 )
2019
18
Serum miR-30c-5p is a potential biomarker for multiple system atrophy. ( 30810945 )
2019
19
Speculating the timing of iron deposition in the putamen in multiple system atrophy. ( 30824284 )
2019
20
Distinctive speech signature in cerebellar and parkinsonian subtypes of multiple system atrophy. ( 30859316 )
2019
21
Frequency and factors related to drooling in Chinese patients with multiple system atrophy: a cross-sectional study. ( 30864043 )
2019
22
The severity of motor dysfunctions and urinary dysfunction is not correlated in multiple system atrophy. ( 30884369 )
2019
23
A mouse model of adult-onset multiple system atrophy. ( 30910745 )
2019
24
"Minimal change" multiple system atrophy with limbic-predominant α-synuclein pathology. ( 30128820 )
2019
25
MRI evaluation of progressive supranuclear palsy: differentiation from Parkinson's disease and multiple system atrophy. ( 30373485 )
2019
26
Parkinson's disease and multiple system atrophy have distinct α-synuclein seed characteristics. ( 30478174 )
2019
27
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
28
Neurogenic bladder in progressive supranuclear palsy: A comparison with Parkinson's disease and multiple system atrophy. ( 29356135 )
2018
29
Progressive striatonigral degenerationA in a transgenic mouse model of multiple system atrophy: translational implications for interventional therapies. ( 29298733 )
2018
30
ɑ-Synuclein strains and seeding in Parkinson's disease, incidental Lewy body disease, dementia with Lewy bodies and multiple system atrophy: similarities and differences. ( 29704213 )
2018
31
Characteristics of Early Oropharyngeal Dysphagia in Patients with Multiple System Atrophy. ( 29621788 )
2018
32
Eosinophilia in the muscle layer of the esophagus and the urinary bladder in a Multiple System Atrophy patient with dysphagia and dysuria. ( 29633461 )
2018
33
Nocturnal Hypertension in Multiple System Atrophy May Cause Posterior Reversible Encephalopathy Syndrome. ( 29877278 )
2018
34
Erratum to "Quadratus Lumborum Block as Sole, Homeostatic-Preserving Anesthetic for a Patient with Multiple System Atrophy Undergoing Open Inguinal Hernia Repair: A Case Report". ( 30210875 )
2018
35
Quadratus Lumborum Block as Sole, Homeostatic-Preserving Anesthetic for a Patient with Multiple System Atrophy Undergoing Open Inguinal Hernia Repair: A Case Report. ( 30050698 )
2018
36
The relationship between four GWAS-identified loci in Alzheimer's disease and the risk of Parkinson's disease, amyotrophic lateral sclerosis, and multiple system atrophy. ( 30144538 )
2018
37
Determining the Effect of the HNMT, STK39, and NMD3 Polymorphisms on the Incidence of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple System Atrophy in Chinese Populations. ( 29564728 )
2018
38
Efficacy of denosumab in two cases with multiple-system atrophy and osteoporosis. ( 29765223 )
2018
39
Breathing Irregularity Is Independently Associated With the Severity of Obstructive Sleep Apnea in Patients With Multiple System Atrophy. ( 30353807 )
2018
40
A case of multiple system atrophy-parkinsonian type with stuttering- and palilalia-like dysfluencies and putaminal atrophy. ( 29157667 )
2018
41
Oligodendroglial α-synucleinopathy-driven neuroinflammation in multiple system atrophy. ( 30444295 )
2018
42
3-Hz postural tremor in multiple system atrophy cerebellar type (MSA-C)-a static posturography study. ( 29027029 )
2018
43
Stridor-related gray matter alterations in multiple system atrophy: A pilot study. ( 30509725 )
2018
44
Abnormal functional connectivity of the amygdala is associated with depressive symptoms in patients with multiple system atrophy. ( 30532544 )
2018
45
Anesthesia in Patients With Multiple-System Atrophy: A Narrative Review and Practice Guidance. ( 30550435 )
2018
46
Altered structural connectivity of the motor subnetwork in multiple system atrophy with cerebellar features. ( 30552481 )
2018
47
5-methylcytosine and 5-hydroxymethylcytosine in brains of patients with multiple system atrophy and patients with Parkinson's disease. ( 30557654 )
2018
48
Extracellular Interactions of Alpha-Synuclein in Multiple System Atrophy. ( 30572656 )
2018
49
Young-onset multiple system atrophy. ( 30578693 )
2018
50
Reply to: Young- onset multiple system atrophy. ( 30578697 )
2018

Variations for Multiple System Atrophy 1

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

76 (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_015697.8(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh37 Chromosome 4, 84205686: 84205686
2 COQ2 NM_015697.8(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh38 Chromosome 4, 83284533: 83284533
3 COQ2 NM_015697.8(COQ2): c.1028T> C (p.Val343Ala) single nucleotide variant risk factor rs397514727 GRCh37 Chromosome 4, 84188812: 84188812
4 COQ2 NM_015697.8(COQ2): c.1028T> C (p.Val343Ala) single nucleotide variant risk factor rs397514727 GRCh38 Chromosome 4, 83267659: 83267659
5 COQ2 NM_015697.8(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh37 Chromosome 4, 84185459: 84185459
6 COQ2 NM_015697.8(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh38 Chromosome 4, 83264306: 83264306
7 COQ2 NM_015697.8(COQ2): c.1160G> A (p.Arg387Gln) single nucleotide variant risk factor rs763562410 GRCh37 Chromosome 4, 84185458: 84185458
8 COQ2 NM_015697.8(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:

38
# 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 19)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.93 DBH DRD2 LRRK2 SQSTM1 TH
2 mitochondrion GO:0005739 9.92 COQ2 GLUD1 LRRK2 MAPT PRKN SNCA
3 lysosome GO:0005764 9.86 GFAP LRRK2 SNCA SQSTM1
4 neuron projection GO:0043005 9.77 LRRK2 MAPT PRKN SLC6A3 TH
5 growth cone GO:0030426 9.76 LRRK2 MAPT SNCA
6 synaptic vesicle GO:0008021 9.75 LRRK2 SNCA TH
7 perikaryon GO:0043204 9.74 DRD2 LRRK2 TH
8 presynapse GO:0098793 9.72 PRKN SNCA SNCB
9 synaptic vesicle membrane GO:0030672 9.63 DRD2 LRRK2 SNCA
10 neuronal cell body GO:0043025 9.63 LRRK2 MAPT MBP SLC6A3 SNCA TH
11 terminal bouton GO:0043195 9.58 LRRK2 SNCA TH
12 dopaminergic synapse GO:0098691 9.51 DRD2 SLC6A3
13 glial cell projection GO:0097386 9.49 GFAP MAPT
14 autolysosome GO:0044754 9.48 LRRK2 SQSTM1
15 Lewy body GO:0097413 9.43 PRKN SQSTM1
16 axon GO:0030424 9.43 DRD2 LRRK2 MAPT SLC6A3 SNCA TH
17 amphisome GO:0044753 9.26 LRRK2 SQSTM1
18 inclusion body GO:0016234 8.92 LRRK2 SNCA SNCB SQSTM1
19 cytoplasm GO:0005737 10.3 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 52)
# 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 9.94 DBH MBP SNCA SNCB
3 negative regulation of neuron apoptotic process GO:0043524 9.89 PRKN SNCA SNCB
4 response to ethanol GO:0045471 9.85 DRD2 SLC6A3 TH
5 mitochondrion organization GO:0007005 9.83 LRRK2 PRKN SQSTM1
6 autophagy GO:0006914 9.81 DRD2 LRRK2 PRKN SQSTM1
7 excitatory postsynaptic potential GO:0060079 9.78 DRD2 LRRK2 SNCA
8 regulation of autophagy GO:0010506 9.77 LRRK2 MAPT PRKN
9 learning GO:0007612 9.76 ATXN1 PRKN TH
10 negative regulation of neuron death GO:1901215 9.72 LRRK2 PRKN SNCA
11 regulation of reactive oxygen species metabolic process GO:2000377 9.71 PRKN SNCA
12 regulation of long-term neuronal synaptic plasticity GO:0048169 9.71 DRD2 SNCA
13 regulation of neurotransmitter secretion GO:0046928 9.71 PRKN SNCA
14 synapse organization GO:0050808 9.71 MAPT SNCA SNCB
15 memory GO:0007613 9.71 ATXN1 DBH MAPT TH
16 behavioral response to cocaine GO:0048148 9.7 DRD2 SNCA
17 regulation of neuron death GO:1901214 9.7 LRRK2 SNCA
18 microglial cell activation GO:0001774 9.7 MAPT SNCA
19 response to metal ion GO:0010038 9.7 SNCB TH
20 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.69 LRRK2 PRKN
21 positive regulation of long-term synaptic potentiation GO:1900273 9.69 DRD2 SQSTM1
22 response to iron ion GO:0010039 9.69 DRD2 SLC6A3
23 regulation of mitochondrion organization GO:0010821 9.68 PRKN SQSTM1
24 startle response GO:0001964 9.68 DRD2 PRKN
25 axon development GO:0061564 9.68 GFAP MAPT
26 striatum development GO:0021756 9.67 DRD2 LRRK2
27 prepulse inhibition GO:0060134 9.67 DRD2 SLC6A3
28 response to cocaine GO:0042220 9.67 DRD2 SLC6A3 SNCA
29 negative regulation of protein phosphorylation GO:0001933 9.67 DRD2 LRRK2 PRKN SNCA
30 cellular response to dopamine GO:1903351 9.66 LRRK2 PRKN
31 neurotransmitter biosynthetic process GO:0042136 9.66 SLC6A3 TH
32 supramolecular fiber organization GO:0097435 9.65 MAPT SNCA
33 regulation of dopamine metabolic process GO:0042053 9.65 PRKN SLC6A3
34 response to nicotine GO:0035094 9.65 DRD2 SLC6A3 TH
35 adenohypophysis development GO:0021984 9.64 DRD2 SLC6A3
36 behavioral response to ethanol GO:0048149 9.63 DBH DRD2
37 intracellular distribution of mitochondria GO:0048312 9.63 LRRK2 MAPT
38 regulation of locomotion GO:0040012 9.62 LRRK2 SNCA
39 dopamine catabolic process GO:0042420 9.62 DBH SLC6A3
40 regulation of mitochondrial fission GO:0090140 9.61 LRRK2 MAPT
41 response to amphetamine GO:0001975 9.61 DBH DRD2 TH
42 protein localization to mitochondrion GO:0070585 9.59 LRRK2 PRKN
43 catecholamine biosynthetic process GO:0042423 9.58 DBH TH
44 mitophagy GO:0000423 9.57 PRKN SQSTM1
45 norepinephrine biosynthetic process GO:0042421 9.56 DBH TH
46 locomotory behavior GO:0007626 9.55 DBH DRD2 PRKN SLC6A3 TH
47 dopamine uptake involved in synaptic transmission GO:0051583 9.52 PRKN SNCA
48 dopamine biosynthetic process GO:0042416 9.5 SLC6A3 SNCA TH
49 regulation of synaptic vesicle transport GO:1902803 9.46 LRRK2 PRKN
50 cellular response to manganese ion GO:0071287 9.43 LRRK2 PRKN TH

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.71 LRRK2 MAPT PRKN SNCA
2 enzyme binding GO:0019899 9.55 MAPT PRKN SNCA SQSTM1 TH
3 ferrous iron binding GO:0008198 9.43 SNCA TH
4 tubulin binding GO:0015631 9.43 LRRK2 MAPT PRKN
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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