MSA1
MCID: MLT157
MIFTS: 72

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
multiple system atrophy 1:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance autosomal recessive inheritance sporadic


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) is a rare neurodegenerative disorder characterized by autonomic... 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 447)
# Related Disease Score Top Affiliating Genes
1 striatonigral degeneration 32.6 DRD2 SLC6A3 SNCA
2 pure autonomic failure 32.3 DBH SNCA TH
3 dementia, lewy body 31.4 LRRK2 MAPT PRKN SLC6A3 SNCA SNCB
4 supranuclear palsy, progressive, 1 30.7 LRRK2 MAPT PRKN SLC6A3 SNCA TH
5 rem sleep behavior disorder 30.6 LRRK2 SLC6A3 SNCA
6 tremor 30.4 LRRK2 MAPT PRKN SNCA
7 machado-joseph disease 30.2 ATXN1 SLC6A3 SNCA
8 essential tremor 30.2 LRRK2 PRKN SLC6A3 SNCA
9 aceruloplasminemia 30.2 ATXN1 COQ2 GFAP SNCA
10 dystonia 29.9 DRD2 PRKN SLC6A3 SQSTM1 TH
11 perry syndrome 29.9 SLC6A3 SNCA TH
12 stuttering 29.8 DBH DRD2 SLC6A3
13 pick disease of brain 29.7 MAPT SNCA SQSTM1
14 frontotemporal dementia 29.7 LRRK2 MAPT SNCA SQSTM1
15 cocaine dependence 29.6 DBH DRD2 SLC6A3
16 parkinson disease, late-onset 29.5 DBH DRD2 LRRK2 MAPT PRKN SLC6A3
17 motor neuron disease 29.5 MAPT SNCA SQSTM1
18 huntington disease 29.3 ATXN1 DRD2 SNCA SQSTM1
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 12.4
28 salla disease 12.2
29 shwachman-diamond syndrome 1 12.0
30 olivopontocerebellar atrophy 11.6
31 semantic dementia 11.6
32 dysautonomia 11.5
33 spinocerebellar ataxia 7 11.5
34 myopathy, lactic acidosis, and sideroblastic anemia 1 11.4
35 trichohepatoenteric syndrome 1 11.3
36 primary orthostatic hypotension 11.3
37 olivopontocerebellar atrophy v 11.3
38 spinocerebellar ataxia, x-linked 1 11.3
39 short stature, idiopathic, x-linked 11.3
40 deafness, autosomal dominant 69 11.2
41 spinal muscular atrophy 11.1
42 microcephaly 1, primary, autosomal recessive 11.1
43 desbuquois dysplasia 1 11.1
44 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.1
45 macrocephaly/autism syndrome 11.1
46 sandhoff disease 11.1
47 sickle cell - hemoglobin d disease 11.1
48 olivopontocerebellar atrophy ii, autosomal recessive 11.0
49 neuropathy, hereditary sensory and autonomic, type iii 11.0
50 autonomic nervous system disease 11.0

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 43)
# 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 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
4 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
5 rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0002063
6 progressive cerebellar ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002073
7 postural tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002174
8 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
9 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359
10 stridor 60 33 frequent (33%) Frequent (79-30%) HP:0010307
11 orthostatic hypotension due to autonomic dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0004926
12 parkinsonism 60 33 frequent (33%) Frequent (79-30%) HP:0001300
13 raynaud phenomenon 60 33 frequent (33%) Frequent (79-30%) HP:0030880
14 postural instability 60 33 frequent (33%) Frequent (79-30%) HP:0002172
15 abnormal brain fdg positron emission tomography 60 33 frequent (33%) Frequent (79-30%) HP:0012658
16 orofacial dyskinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002310
17 gaze-evoked nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000640
18 resting tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002322
19 autonomic bladder dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0005341
20 central sleep apnea 60 33 frequent (33%) Frequent (79-30%) HP:0010536
21 abnormal rapid eye movement sleep 60 33 frequent (33%) Frequent (79-30%) HP:0002494
22 axial dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0002530
23 autonomic erectile dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0008652
24 orthostatic syncope 60 33 frequent (33%) Frequent (79-30%) HP:0012670
25 female anorgasmia 60 33 frequent (33%) Frequent (79-30%) HP:0030015
26 camptocormia 60 33 frequent (33%) Frequent (79-30%) HP:0100595
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 skeletal muscle atrophy 33 HP:0003202
34 hypohidrosis 33 HP:0000966
35 babinski sign 33 HP:0003487
36 neurodegeneration 33 HP:0002180
37 urinary urgency 33 HP:0000012
38 urinary incontinence 33 HP:0000020
39 anhidrosis 33 HP:0000970
40 impotence 33 HP:0000802
41 orthostatic hypotension 33 HP:0001278
42 olivopontocerebellar atrophy 33 HP:0002542
43 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
Dopamine Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 62-31-7, 51-61-6 681
4
Midodrine Approved Phase 4,Phase 1 133163-28-7, 42794-76-3 4195
5 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
6 Botulinum Toxins, Type A Phase 4
7 abobotulinumtoxinA Phase 4
8 Acetylcholine Release Inhibitors Phase 4
9 Botulinum Toxins Phase 4
10 Neuromuscular Agents Phase 4
11 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Cholinergic Agents Phase 4,Phase 2,Phase 1
13 Antiparkinson Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Sympathomimetics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
15 Vasoconstrictor Agents Phase 4,Phase 2,Phase 1,Early Phase 1
16 Adrenergic Agents Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable
17 Adrenergic Agonists Phase 4,Phase 2,Phase 1,Not Applicable
18 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 1
19 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20
Rifampicin Approved Phase 3 13292-46-1 5381226 5458213
21
Riluzole Approved, Investigational Phase 3,Phase 2 1744-22-5 5070
22
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
23
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
24
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
25
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
26
Epigallocatechin Experimental, Investigational Phase 3 970-74-1 72277
27
Epigallocatechin gallate Investigational Phase 3 989-51-5 65064
28 Photosensitizing Agents Phase 3
29 Anti-Bacterial Agents Phase 3,Phase 2
30 Antibiotics, Antitubercular Phase 3,Phase 2
31 Anti-Infective Agents Phase 3,Phase 2
32 Nucleic Acid Synthesis Inhibitors Phase 3
33 Dermatologic Agents Phase 3
34 Vitamin B9 Phase 3
35 Isoniazid, pyrazinamide, rifampin drug combination Phase 3
36 Vitamins Phase 3
37 Antitubercular Agents Phase 3
38 Folate Phase 3
39 Vitamin B2 Phase 3
40 Trace Elements Phase 3
41 Vitamin B Complex Phase 3
42 Cytochrome P-450 CYP3A Inducers Phase 3
43 Micronutrients Phase 3
44 Nutrients Phase 3
45 Protective Agents Phase 3,Phase 2,Not Applicable
46 Antioxidants Phase 3,Phase 2,Not Applicable
47 Neuroprotective Agents Phase 3,Phase 2
48 Excitatory Amino Acids Phase 3,Phase 2
49 Excitatory Amino Acid Antagonists Phase 3,Phase 2
50 Anticonvulsants Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 112)
# 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 Study of BHV-3241 in Subjects With Multiple System Atrophy Not yet recruiting NCT03952806 Phase 3 Verdiperstat;Placebo
7 Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy Recruiting NCT03901638 Phase 3 Tllsh2910;Placebo
8 Study of Rifampicin in Multiple System Atrophy Terminated NCT01287221 Phase 3 Rifampicin;placebo
9 Progression Rate of MSA Under EGCG Supplementation as Anti-Aggregation-Approach Completed NCT02008721 Phase 3 EGCG as putative neuroprotective agent;Placebo
10 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3 Riluzole
11 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3 Minocyline
12 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3 Droxidopa;Placebo
13 A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa Completed NCT00782340 Phase 3 Placebo;Droxidopa
14 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00633880 Phase 3 Placebo;Droxidopa
15 A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
16 Clinical Effect of TD-9855 for Treating snOH in Subjects With Primary Autonomic Failure Recruiting NCT03750552 Phase 3 TD-9855;Placebo
17 Clinical Effect Durability of TD-9855 for Treating snOH in Subjects With Primary Autonomic Failure Recruiting NCT03829657 Phase 3 TD-9855;Placebo
18 Fipamezole in Neurogenic Orthostatic Hypotension Unknown status NCT00758849 Phase 2 Placebo;Fipamezole
19 Establishing 18F-PBR06 PET Imaging as a Viable Pharmacodynamic Endpoint in MSA Unknown status NCT03033680 Phase 1, Phase 2 [F-18]PBR06
20 A Futility Trial of Sirolimus in Multiple System Atrophy Recruiting NCT03589976 Phase 2 Sirolimus 2 MG
21 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
22 Fluoxetine in Multiple System Atrophy Patients Completed NCT01146548 Phase 2 FLUOXETINE
23 Treatment of Multiple System Atrophy Using Intravenous Immunoglobulins Completed NCT00750867 Phase 2 intravenous immunoglobulin (IVIg)
24 Lithium in Multiple System Atrophy Terminated NCT00997672 Phase 2 Lithium Carbonate;Placebo
25 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
26 Trial of Autologous Mesenchymal Stem Cells in Patients With Multiple System Atrophy Completed NCT00911365 Phase 2
27 Treatment of Parkinson Disease and Multiple System Atrophy Using Intranasal Insulin. Completed NCT02064166 Phase 2 Intranasal Insulin
28 AZD3241 PET MSA Trial, Phase 2, Randomized,12 Week Safety and Tolerability Trial With PET in MSA Patients Completed NCT02388295 Phase 2 AZD3241;Placebo
29 Safinamide for Multiple System Atrophy (MSA) Not yet recruiting NCT03753763 Phase 2 Safinamide Methanesulfonate;Safinamide Methanesulfonate matching placebo
30 Norepinephrine Transporter Blockade, Autonomic Failure Recruiting NCT02796209 Phase 2 Atomexetine;Placebo
31 Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism Not yet recruiting NCT03446807 Phase 2 Droxidopa;Placebo Oral Tablet
32 Augmenting Effects of L-DOPS With Carbidopa and Entacapone Terminated NCT00547911 Phase 1, Phase 2 Droxidopa;Carbidopa;Entacapone
33 The Differential Diagnosis of Parkinson's Disease and Parkinsonism by Positron-emission Tomography Completed NCT01824056 Phase 2 18F-FDG
34 Acetylcholinesterase Inhibition and Orthostatic Hypotension in SCI Completed NCT02307526 Phase 2 Pyridostigmine Bromide
35 TD-9855 Phase 2 in Neurogenic Orthostatic Hypotension (nOH) Completed NCT02705755 Phase 2 TD-9855;Placebo
36 Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
37 Safety and Tolerability of CS10BR05 Inj. in Subjects With Multiple System Atrophy Recruiting NCT03265444 Phase 1
38 Efficacy of Therapeutic Interventions for Orthostatic Hypotension in Parkinson's Disease and Multiple System Atrophy Completed NCT00103597 Phase 1 Fludrocortisone;Domperidone
39 Mesenchymal Stem Cell Therapy in Multiple System Atrophy Active, not recruiting NCT02315027 Phase 1
40 Study Assessing Safety and Therapeutic Activity of AFFITOPE® PD01A and PD03A in Patients With Early MSA Completed NCT02270489 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 Reduction in Splanchnic Capacitance Contributes to Sympathetically Dependent Hypertension in Autonomic Recruiting NCT02726711 Phase 1 Trimethaphan;Placebo
44 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
45 Hemodynamic Mechanisms of Abdominal Compression in the Treatment of Orthostatic Hypotension in Autonomic Failure Recruiting NCT02429557 Phase 1 Placebo pill;midodrine
46 The Autonomic Nervous System and Obesity Completed NCT00179023 Phase 1 Trimethaphan;Trimethaphan;Pseudoephedrine
47 Open Label Treatment With tDCS for Parkinson's and Related Disorders for Improvement of Speech, Gait and Mood Completed NCT02104401 Phase 1
48 Effects of Midodrine and Droxidopa on Splanchnic Capacitance in Autonomic Failure Recruiting NCT02897063 Phase 1 Droxidopa;Midodrine;Placebo
49 Evaluation of a Multimodal Neuroimaging Method for Diagnosis in Parkinsonian Syndromes Unknown status NCT02428816 Not Applicable
50 Diagnostic and Prognostic Biomarkers in Parkinson Disease Unknown status NCT00653783

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 COQ2

Anatomical Context for Multiple System Atrophy 1

MalaCards organs/tissues related to Multiple System Atrophy 1:

42
Brain, Testes, Cerebellum, Eye, Spinal Cord, Bone, Heart
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 1787)
# Title Authors Year
1
Multiple rib fractures due to dystonia in a multiple system atrophy-Parkinsonian patient. ( 30935675 )
2019
2
Exploring the frequency and clinical background of the "zebra sign" in amyotrophic lateral sclerosis and multiple system atrophy. ( 31075684 )
2019
3
"Minimal change" multiple system atrophy with limbic-predominant α-synuclein pathology. ( 30128820 )
2019
4
Abnormalities on structural MRI associate with faster disease progression in multiple system atrophy. ( 30145124 )
2019
5
Exploring the putative role of kallikrein-6, calpain-1 and cathepsin-D in the proteolytic degradation of α-synuclein in multiple system atrophy. ( 29993134 )
2019
6
Abnormalities of white and grey matter in early multiple system atrophy: comparison of parkinsonian and cerebellar variants. ( 29974222 )
2019
7
Replication of multiple system atrophy prions in primary astrocyte cultures from transgenic mice expressing human α-synuclein. ( 31109379 )
2019
8
Identification of plasma microRNA expression changes in multiple system atrophy and Parkinson's disease. ( 31088501 )
2019
9
Dyskinesia in multiple system atrophy and progressive supranuclear palsy. ( 31087195 )
2019
10
Early-onset pathologically proven multiple system atrophy with LRRK2 G2019S mutation. ( 31077434 )
2019
11
Pupillary dysfunction of multiple system atrophy: Dynamic pupillometric findings and clinical correlations. ( 31076267 )
2019
12
Alterations in Cognition-Related Cerebello-Cerebral Networks in Multiple System Atrophy. ( 31069705 )
2019
13
A critique of the second consensus criteria for multiple system atrophy. ( 31034671 )
2019
14
Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease. ( 31024027 )
2019
15
Safety and preliminary efficacy of intranasal insulin for cognitive impairment in Parkinson disease and multiple system atrophy: A double-blinded placebo-controlled pilot study. ( 31022213 )
2019
16
Altered functional connectivity of dentate nucleus in parkinsonian and cerebellar variants of multiple system atrophy. ( 31011950 )
2019
17
Endogenous oligodendroglial alpha-synuclein and TPPP/p25α orchestrate alpha-synuclein pathology in experimental multiple system atrophy models. ( 31011860 )
2019
18
Phosphorylated NUB1 distinguishes α-synuclein in Lewy bodies from that in glial cytoplasmic inclusions in multiple system atrophy. ( 31006160 )
2019
19
Differential diagnosis of multiple system atrophy with predominant parkinsonism and Parkinson's disease using neural networks. ( 31005759 )
2019
20
Prevalence of and factors associated with postural deformities in Chinese patients with multiple system atrophy. ( 30987897 )
2019
21
Multiple system atrophy mimicked by multi-organ pathology. ( 30975708 )
2019
22
The Shaking Palsy of the Larynx-Potential Biomarker for Multiple System Atrophy: A Pilot Study and Literature Review. ( 30972002 )
2019
23
Alterations in Striatal microRNA-mRNA Networks Contribute to Neuroinflammation in Multiple System Atrophy. ( 30968343 )
2019
24
Does peripheral inflammation contribute to multiple system atrophy? ( 30940429 )
2019
25
Differences in the intra-cerebellar connections and graph theoretical measures between Parkinson's disease and multiple system atrophy. ( 30928779 )
2019
26
Morphometric MRI profiles of multiple system atrophy variants and implications for differential diagnosis. ( 30919495 )
2019
27
A mouse model of adult-onset multiple system atrophy. ( 30910745 )
2019
28
The severity of motor dysfunctions and urinary dysfunction is not correlated in multiple system atrophy. ( 30884369 )
2019
29
Frequency and factors related to drooling in Chinese patients with multiple system atrophy: a cross-sectional study. ( 30864043 )
2019
30
Distinctive speech signature in cerebellar and parkinsonian subtypes of multiple system atrophy. ( 30859316 )
2019
31
Speculating the timing of iron deposition in the putamen in multiple system atrophy. ( 30824284 )
2019
32
Serum miR-30c-5p is a potential biomarker for multiple system atrophy. ( 30810945 )
2019
33
A Comparison of Pain between Parkinson's Disease and Multiple System Atrophy: A Clinical Cross-Sectional Survey. ( 30805069 )
2019
34
Do multiple system atrophy and Parkinson's disease show distinct patterns of volumetric alterations across hippocampal subfields? An exploratory study. ( 30796577 )
2019
35
Early distinction of Parkinson-variant multiple system atrophy from Parkinson's disease. ( 30788854 )
2019
36
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
37
Dopamine transporter imaging for the diagnosis of multiple system atrophy cerebellar type. ( 30745212 )
2019
38
Frontal lobe function, behavioral changes and quality of life in patients with multiple system atrophy. ( 30741706 )
2019
39
Dissecting α-synuclein inclusion pathology diversity in multiple system atrophy: implications for the prion-like transmission hypothesis. ( 30737468 )
2019
40
Widespread microglial activation in multiple system atrophy. ( 30726574 )
2019
41
Wide distribution of alpha-synuclein oligomers in multiple system atrophy brain detected by proximity ligation. ( 30721406 )
2019
42
Non-aneurysmal Subarachnoid Hemorrhaging: A Rare Cause of Death in a Patient with Multiple System Atrophy. ( 30713290 )
2019
43
Multiple system atrophy prions retain strain specificity after serial propagation in two different Tg(SNCA*A53T) mouse lines. ( 30690664 )
2019
44
Differentiation Between Multiple System Atrophy and Other Spinocerebellar Degenerations Using Diffusion Kurtosis Imaging. ( 30658931 )
2019
45
Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy. ( 30613928 )
2019
46
5-methylcytosine and 5-hydroxymethylcytosine in brains of patients with multiple system atrophy and patients with Parkinson's disease. ( 30557654 )
2019
47
An update on advances in magnetic resonance imaging of multiple system atrophy. ( 30460448 )
2019
48
Anle138b modulates α-synuclein oligomerization and prevents motor decline and neurodegeneration in a mouse model of multiple system atrophy. ( 30452793 )
2019
49
Oligodendroglial α-synucleinopathy-driven neuroinflammation in multiple system atrophy. ( 30444295 )
2019
50
MRI evaluation of progressive supranuclear palsy: differentiation from Parkinson's disease and multiple system atrophy. ( 30373485 )
2019

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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