MSA1
MCID: MLT021
MIFTS: 70

Multiple System Atrophy (MSA1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Multiple System Atrophy

Aliases & Descriptions for Multiple System Atrophy:

Name: Multiple System Atrophy 54 38 12 50 25 56 52 42 14 69
Shy-Drager Syndrome 12 25 51 29 42 69
Msa 50 25 56
Sporadic Olivopontocerebellar Atrophy 25 69
Progressive Autonomic Failure with Multiple System Atrophy 25
Multiple System Atrophy 1, Susceptibility to 54
Multiple System Atrophy 1 66
Multisystem Atrophy 56
Opca 25
Msa1 66
Sds 25

Characteristics:

Orphanet epidemiological data:

56
multiple system atrophy
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Worldwide),1-5/10000 (Japan); Age of onset: Adult;

HPO:

32

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 146500
Disease Ontology 12 DOID:4752
SNOMED-CT 64 16576004 230297002
Orphanet 56 ORPHA102
MESH via Orphanet 43 D019578
UMLS via Orphanet 70 C0393571
ICD10 via Orphanet 34 G90.3

Summaries for Multiple System Atrophy

NIH Rare Diseases : 50 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.  the disease tends to advance rapidly over the course of 9 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. the cause of multiple system atrophy is unknown, although environmental toxins, trauma, and genetic factors have been suggested. most cases are sporadic, meaning they occur at random. a possible risk factor for the disease is variations in the synuclein gene scna, which provides instructions for the production of alpha-synuclein. a characteristic feature of msa is the accumulation of the protein alpha-synuclein in glia, the cells that support nerve cells in the brain. these deposits of alpha-synuclein particularly occur in oligodendroglia, a type of cell that makes myelin (a coating on nerve cells that lets them conduct electrical signals rapidly). this protein also accumulates in parkinson’s disease, but in nerve cells. because they both have a buildup of alpha-synuclein in cells, msa and parkinson’s disease are sometimes referred to as synucleinopathies.  there is no cure for this condition, and there is no known way to prevent the disease from getting worse. the goal of treatment is to control symptoms.  last updated: 11/5/2015

MalaCards based summary : Multiple System Atrophy, also known as shy-drager syndrome, is related to cerebral atrophy and personality disorder, and has symptoms including ataxia, tremor and bradykinesia. An important gene associated with Multiple System Atrophy is COQ2 (Coenzyme Q2, Polyprenyltransferase), and among its related pathways/superpathways are Neuroscience and Amphetamine addiction. The drugs Acetylcholine and Interferon beta-1a have been mentioned in the context of this disorder. Affiliated tissues include Limb and Bone, and related phenotypes are behavior/neurological and homeostasis/metabolism

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.

OMIM : 54 Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset... (146500) more...

NINDS : 51 Multiple system atrophy with orthostatic hypotension is the current classification for a neurological disorder that was once called Shy-Drager syndrome. A progressive disorder of the central and autonomic nervous systems, it is characterized by orthostatic hypotension (an excessive drop in blood pressure when standing up) which causes dizziness or fainting. Multiple system atrophy can occur without orthostatic hypotension, but instead have urinary involvement (urgency/incontinence).  Doctors classify the disorder into 3 types: the  includes symptoms of Parkinson's disease such as slow movement, stiff muscles, and tremor; the , which causes problems with coordination and speech; and the , which includes symptoms of both parkinsonism and cerebellar failure. Problems with urinary incontinence, constipation, and sexual impotence in men happen early in the course of the disease. Other symptoms include generalized weakness, double vision or other vision disturbances, difficulty breathing and swallowing, sleep disturbances, and decreased sweating. Because the disease resembles others, a correct diagnosis may take years.

UniProtKB/Swiss-Prot : 66 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 : 71 Multiple system atrophy (MSA), also known as Shy-Drager syndrome, is a rare neurodegenerative disorder... more...

Related Diseases for Multiple System Atrophy

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

(show top 50) (show all 154)
id Related Disease Score Top Affiliating Genes
1 cerebral atrophy 29.6 DBH SNCA
2 personality disorder 29.4 DRD2 MAPT SLC6A3 SNCA
3 multiple system atrophy with orthostatic hypotension 12.2
4 multiple system atrophy, cerebellar type 12.1
5 multiple system atrophy, parkinsonian type 12.1
6 hemoglobin sd 12.0
7 shwachman-diamond syndrome 11.7
8 salla disease 11.4
9 olivopontocerebellar atrophy 11.3
10 striatonigral degeneration 11.2
11 autonomic dysfunction 11.2
12 dysautonomia 11.2
13 pure autonomic failure 11.1
14 postural hypotension 11.0
15 trichohepatoenteric syndrome 1 11.0
16 semantic dementia 11.0
17 sydenham chorea 11.0
18 rheumatic encephalitis 11.0
19 autosomal dominant nonsyndromic deafness 69 10.9
20 microcephaly 1, primary, autosomal recessive 10.8
21 macrocephaly/autism syndrome 10.8
22 desbuquois dysplasia 1 10.8
23 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.8
24 sandhoff disease, infantile, juvenile, and adult forms 10.8
25 dysautonomia, familial 10.7
26 dementia, lewy body 10.7
27 primary orthostatic hypotension 10.7
28 short stature, idiopathic familial 10.7
29 macular dystrophy, vitelliform, 4 10.7
30 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.7
31 short stature with nonspecific skeletal abnormalities 10.7
32 frontotemporal lobar degeneration with ubiquitin-positive inclusions 10.7
33 microcephaly 5, primary, autosomal recessive 10.7
34 macular dystrophy, vitelliform, 5 10.7
35 acid-labile subunit, deficiency of 10.7
36 lissencephaly 4 10.7
37 desbuquois dysplasia 2 10.7
38 nanophthalmos 4 10.7
39 microcephaly 10, primary, autosomal recessive 10.7
40 ceroid lipofuscinosis, neuronal, 1 10.3 LRRK2 SNCA
41 lethal congenital contracture syndrome 8 10.3 LRRK2 SNCA
42 neuronitis 10.3
43 spink1-related hereditary pancreatitis 10.2 LRRK2 MAPT SNCA
44 scrotum basal cell carcinoma 10.2 MAPT SLC6A3
45 transient neonatal myasthenia gravis 10.2 LRRK2 SNCA
46 plekhm1-related autosomal recessive osteopetrosis 10.2 LRRK2 MAPT SNCA
47 autoimmune disease of urogenital tract 10.2 LRRK2 MAPT SNCA
48 andersen syndrome 10.2 MAPT RPS27A SQSTM1
49 ataxia 10.2
50 dementia 10.2

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



Diseases related to Multiple System Atrophy

Symptoms & Phenotypes for Multiple System Atrophy

Symptoms by clinical synopsis from OMIM:

146500

Clinical features from OMIM:

146500

Human phenotypes related to Multiple System Atrophy:

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 tremor 32 HP:0001337
3 bradykinesia 32 HP:0002067
4 ptosis 32 HP:0000508
5 dysarthria 32 HP:0001260
6 hyperreflexia 32 HP:0001347
7 dysautonomia 32 HP:0002459
8 cognitive impairment 32 HP:0100543
9 skeletal muscle atrophy 32 HP:0003202
10 hypohidrosis 32 HP:0000966
11 babinski sign 32 HP:0003487
12 rigidity 32 HP:0002063
13 neurodegeneration 32 HP:0002180
14 anhidrosis 32 HP:0000970
15 impotence 32 HP:0000802
16 orthostatic hypotension 32 HP:0001278
17 parkinsonism 32 HP:0001300
18 postural instability 32 HP:0002172
19 urinary incontinence 32 HP:0000020
20 olivopontocerebellar atrophy 32 HP:0002542
21 urinary urgency 32 HP:0000012
22 gaze-evoked nystagmus 32 HP:0000640
23 iris atrophy 32 HP:0001089

MGI Mouse Phenotypes related to Multiple System Atrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 DRD2 GFAP LRRK2 MAOB MAP2 MAPT
2 homeostasis/metabolism MP:0005376 10.22 ATXN1 LRRK2 MAOB MAPT MBP SLC6A3
3 growth/size/body region MP:0005378 10.21 ATXN1 DBH DRD2 GFAP MAP2 MAPT
4 mortality/aging MP:0010768 10.2 COQ2 DBH DRD2 GFAP LRRK2 MAP2
5 cellular MP:0005384 10.16 DRD2 GFAP LRRK2 MAOB MAPT MBP
6 nervous system MP:0003631 10.13 ATXN1 BSN DBH DRD2 GFAP LRRK2
7 integument MP:0010771 9.97 DBH DRD2 LRRK2 MAPT SLC6A3 SNCA
8 normal MP:0002873 9.85 DBH DRD2 GFAP LRRK2 MAPT MBP
9 skeleton MP:0005390 9.61 SQSTM1 ATXN1 COQ2 DBH DRD2 LRRK2
10 taste/olfaction MP:0005394 8.92 DRD2 MAPT SLC6A3 SNCA

Drugs & Therapeutics for Multiple System Atrophy

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

(show top 50) (show all 425)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 2,Phase 1 51-84-3 187
2
Interferon beta-1a Approved, Investigational Phase 4,Phase 3,Phase 2 145258-61-3 6438354
3
Interferon beta-1b Approved Phase 4,Phase 3,Phase 2 145155-23-3
4
Dopamine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-61-6, 62-31-7 681
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
7
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
8
Acetaminophen Approved Phase 4 103-90-2 1983
9
Memantine Approved, Investigational Phase 4 19982-08-2 4054
10
Midodrine Approved Phase 4,Phase 1 133163-28-7, 42794-76-3 4195
11
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
12
Glatiramer Acetate Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 147245-92-9 3081884
13
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
14
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
15
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 23651-95-8 443940
16
Adapalene Approved Phase 4 106685-40-9 60164
17
Benzoyl peroxide Approved Phase 4 94-36-0 7187
18
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
19
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
20
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
21
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
22 interferons Phase 4,Phase 3,Phase 2
23 Analgesics Phase 4,Phase 3,Phase 1,Phase 2
24 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
25 Cholinergic Agents Phase 4,Phase 2,Phase 1
26 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2,Phase 1
27 Neuromuscular Agents Phase 4,Phase 1,Phase 2
28 Neuroprotective Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
30 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2
31 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
32 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
33 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
35 abobotulinumtoxinA Phase 4,Phase 2,Phase 1
36 Immunoglobulins Phase 4,Phase 3,Phase 2
37 incobotulinumtoxinA Phase 4,Phase 2,Phase 1
38 onabotulinumtoxinA Phase 4,Phase 2,Phase 1
39 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
40 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
41 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Interferon-beta Phase 4,Phase 3,Phase 2
45 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 1,Phase 2
47 Antimetabolites Phase 4,Phase 2
48 Antibodies Phase 4,Phase 3,Phase 2
49 Antirheumatic Agents Phase 4,Phase 3,Phase 1,Phase 2
50 Botulinum Toxins Phase 4,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 388)
id Name Status NCT ID Phase
1 Botulinum A Toxin in Patients With Parkinson's Disease Unknown status NCT00822913 Phase 4
2 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4
3 A Study for Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4
4 Fingolimod Versus Interferon Beta 1b in Cognitive Symptoms Completed NCT01333501 Phase 4
5 Safety/Effectiveness of Adding Monthly Dexamethasone to Weekly Avonex for MS Completed NCT00232193 Phase 4
6 Avonex (Interferon-beta-1a) and Avonex Plus Methylprednisolone for the Treatment of Relapsing-remitting MS Completed NCT00168766 Phase 4
7 AVONEX® Combination Trial - "ACT" Completed NCT00112034 Phase 4
8 Cutivate Lotion HPA Axis Pediatric Study Completed NCT00546000 Phase 4
9 Is IFN-beta Treatment in MS Useful After a Washout Period in Patients With Neutralizing Antibodies to Interferon Beta Completed NCT00493116 Phase 4
10 Study of Memantine in Assessment of Selected Measures of Volumetric Magnetic Resonance Imaging (MRI) and Cognition in Moderate AD (Alzheimer's Disease) Completed NCT00334906 Phase 4
11 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
12 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
13 Efficacy and Safety of Teprenone in Patients With Acute Gastritis, Acute Gastric Lesion of Chronic Gastritis With Acute Exacerbation or Gastric Ulcer Completed NCT01190657 Phase 4
14 Clinical Evaluation of Single-stage Advanced Versus Rotated Flaps in the Treatment of Gingival Recessions Completed NCT02433912 Phase 4
15 Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension Recruiting NCT02586623 Phase 4
16 Effect of Fingolimod on Neurodegeneration Recruiting NCT02575365 Phase 4
17 Body Composition Measurements in Chronic Heart Failure Recruiting NCT02686866 Phase 4
18 Adapalene 0.3% - Benzoyl Peroxide 2.5% Gel and Risk of Formation of Atrophic Acne Scars Active, not recruiting NCT02735421 Phase 4
19 A Phase IV Study in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4
20 Assessment Study of Steroid Effect in Relapsing Multiple Sclerosis Subjects Treated With Glatiramer Acetate Terminated NCT00203047 Phase 4
21 Progression Rate of MSA Under EGCG Supplementation as Anti-Aggregation-Approach Completed NCT02008721 Phase 3
22 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3
23 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3
24 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00633880 Phase 3
25 A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa Completed NCT00782340 Phase 3
26 Lipoic Acid for Secondary Progressive Multiple Sclerosis (MS) Completed NCT01188811 Phase 2, Phase 3
27 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3
28 Sunphenon in Progressive Forms of Multiple Sclerosis Completed NCT00799890 Phase 2, Phase 3
29 Phase III Study With Teriflunomide Versus Placebo in Patients With First Clinical Symptom of Multiple Sclerosis Completed NCT00622700 Phase 3
30 Evaluate Early Glatiramer Acetate Treatment in Delaying Conversion to Clinically Definite Multiple Sclerosis of Subjects Presenting With Clinically Isolated Syndrome Completed NCT00666224 Phase 3
31 A Study for Patients With Secondary Progressive Multiple Sclerosis Completed NCT00869726 Phase 2, Phase 3
32 Omega-3 Fatty Acid Treatment in Multiple Sclerosis Completed NCT00360906 Phase 2, Phase 3
33 Feasibility Trial of Traumatic Brain Injured Patients Randomized in the Prehospital Setting to Either Hypertonic Saline and Dextran Versus Normal Saline Completed NCT00878631 Phase 2, Phase 3
34 Intravenous Immunoglobulins for Post-Polio Syndrome Completed NCT01537575 Phase 3
35 Tacrolimus/Everolimus Versus Tacrolimus/Enteric-Coated Mycophenolate Sodium Completed NCT01680861 Phase 3
36 Sunphenon EGCg (Epigallocatechin-Gallate) in the Early Stage of Alzheimer´s Disease Completed NCT00951834 Phase 2, Phase 3
37 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3
38 Efficacy of L-threo DOPS on Orthostatic Hypotension Symptoms and Other Non-motor Symptoms in Patients With MSA Recruiting NCT02071459 Phase 2, Phase 3
39 Screening of Obstructive Sleep Apnea Syndrome in Residents of a Unit of Long-term Care Under Mixed Food Recruiting NCT02839499 Phase 3
40 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Recruiting NCT01671384 Phase 3
41 National Multicenter, Controlled, Single-blind Study With Two Parallel Groups Evaluating the Safety and Efficacy of Sequential Treatment With Mitoxantrone and Interferon Versus Interferon Alone in Patients With Strong Risk of Progression in the Initial Ph Recruiting NCT02937285 Phase 3
42 Efficacy, Safety and Pharmacokinetics of Teriflunomide in Pediatric Patients With Relapsing Forms of Multiple Sclerosis Recruiting NCT02201108 Phase 3
43 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3
44 Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of BMS-986089 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3
45 Stem Cell Therapy for Patients With Multiple Sclerosis Failing Alternate Approved Therapy- A Randomized Study Active, not recruiting NCT00273364 Phase 3
46 BG00012 Monotherapy Safety and Efficacy Extension Study in Multiple Sclerosis (MS) Active, not recruiting NCT00835770 Phase 3
47 The Study of Nasal Insulin in the Fight Against Forgetfulness (SNIFF) Active, not recruiting NCT01767909 Phase 2, Phase 3
48 Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation. Active, not recruiting NCT01760005 Phase 2, Phase 3
49 Confirmatory Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3
50 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3

Search NIH Clinical Center for Multiple System Atrophy

Cell-based therapeutics:


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

Cochrane evidence based reviews: multiple system atrophy

Genetic Tests for Multiple System Atrophy

Genetic tests related to Multiple System Atrophy:

id Genetic test Affiliating Genes
1 Shy-Drager Syndrome 29

Anatomical Context for Multiple System Atrophy

MalaCards organs/tissues related to Multiple System Atrophy:

39
Brain, Cerebellum, Bone, Bone Marrow, Testes, Eye, Skin
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Multiple System Atrophy:
id 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

Articles related to Multiple System Atrophy:

(show top 50) (show all 855)
id Title Authors Year
1
Author response: A genome-wide association study in multiple system atrophy. ( 28348123 )
2017
2
Early strong intrathecal inflammation in cerebellar type multiple system atrophy by cerebrospinal fluid cytokine/chemokine profiles: a case control study. ( 28438224 )
2017
3
Relevance of non-specific MRI features in multiple system atrophy. ( 28527404 )
2017
4
The Utility of Post-Void Residual Volume versus Sphincter Electromyography to Distinguish between Multiple System Atrophy and Parkinson's Disease. ( 28060892 )
2017
5
Pathologic confirmation of retinal ganglion cell loss in multiple system atrophy. ( 28490649 )
2017
6
Changes in the cell population in brain white matter in multiple system atrophy. ( 28394027 )
2017
7
Serum uric acid level is linked to the disease progression rate in male patients with multiple system atrophy. ( 28432997 )
2017
8
Combination of alpha-synuclein immunotherapy with anti-inflammatory treatment in a transgenic mouse model of multiple system atrophy. ( 28057080 )
2017
9
Insulin resistance and exendin-4 treatment for multiple system atrophy. ( 28334990 )
2017
10
Natural course and potential prognostic factors for sleep-disordered breathing in multiple system atrophy. ( 28522081 )
2017
11
Multiple system atrophy: insights into a rare and debilitating movement disorder. ( 28303913 )
2017
12
Letter re: A genome-wide association study in multiple system atrophy. ( 28348122 )
2017
13
Nutritional Status and Changes in Body Weight in Patients with Multiple System Atrophy. ( 27894118 )
2017
14
Perirhinal accumulation of neuronal alpha-synuclein in a multiple system atrophy patient with dementia. ( 28419566 )
2017
15
Multiple System Atrophy - State of the Art. ( 28378233 )
2017
16
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
17
Association analysis of polymorphisms in VMAT2 and TMEM106B genes for Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy. ( 28477711 )
2017
18
Multiple system atrophy: clinicopathological characteristics in Japanese patients. ( 28496050 )
2017
19
Sequence TMEM230 gene in patients with multiple system atrophy in a southwest Chinese population: A pilot study. ( 28320143 )
2017
20
The many faces of autonomic failure in multiple system atrophy. ( 28090690 )
2017
21
Distinct patterns of imprecise consonant articulation among Parkinson's disease, progressive supranuclear palsy and multiple system atrophy. ( 27894006 )
2017
22
Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles. ( 27866117 )
2017
23
Palliative care and its emerging role in Multiple System Atrophy and Progressive Supranuclear Palsy. ( 28341224 )
2017
24
Multiple system atrophy: pathogenic mechanisms and biomarkers. ( 27098666 )
2016
25
Obsessive compulsive personality disorder in Progressive Supranuclear Palsy, Multiple System Atrophy and Essential Tremor. ( 27364040 )
2016
26
AMBRA1, a novel I+-synuclein-binding protein, is implicated in the pathogenesis of multiple system atrophy. ( 27875637 )
2016
27
SLC1A2 rs3794087 are associated with susceptibility to Parkinson's disease, but not essential tremor, amyotrophic lateral sclerosis or multiple system atrophy in a Chinese population. ( 27206883 )
2016
28
Coenzyme Q10 as a Peripheral Biomarker for Multiple System Atrophy. ( 27367485 )
2016
29
Transcranial sonography in idiopathic REM sleep behavior disorder and multiple system atrophy. ( 27898200 )
2016
30
Erratum to: The PROMESA-protocol: progression rate of multiple system atrophy under EGCG supplementation as anti-aggregation-approach. ( 27562771 )
2016
31
Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy. ( 27356913 )
2016
32
Clinical Features in a Danish Population-Based Cohort of Probable Multiple System Atrophy Patients. ( 26974556 )
2016
33
New susceptible variant of COQ2 gene in Japanese patients with sporadic multiple system atrophy. ( 27123473 )
2016
34
A Case of Multiple System Atrophy with Preexisting Alzheimer's Disease and Predating The Hot Cross Bun Sign. ( 28382615 )
2016
35
FBXO7 mutations in Parkinson's disease and multiple system atrophy. ( 26882974 )
2016
36
Acoustic Characteristics of Stridor in Multiple System Atrophy. ( 27093692 )
2016
37
Specific patterns of laryngeal electromyography during wakefulness are associated to sleep disordered breathing and nocturnal stridor in multiple system atrophy. ( 27510647 )
2016
38
MRI-based cerebellar volume measurements correlate with the International Cooperative Ataxia Rating Scale score in patients with spinocerebellar degeneration or multiple system atrophy. ( 27536377 )
2016
39
Whole-Brain Atrophy Rate in Idiopathic Parkinson's Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy. ( 27190673 )
2016
40
Association analysis of the GRNA a88rs5848 and MAPT rs242557 polymorphisms in Parkinson's disease and multiple system atrophy: a large-scale population-based study and meta-analysis. ( 26303052 )
2016
41
Genetics of multiple system atrophy: Back to square one? ( 27629090 )
2016
42
Overlaps between multiple system atrophy and multiple sclerosis: A novel perspective. ( 27869324 )
2016
43
No association of GPNMB rs156429 polymorphism with Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy in Chinese population. ( 27132081 )
2016
44
Imaging-based differential diagnosis between multiple system atrophy and Parkinson's disease. ( 27538610 )
2016
45
Altered bulbocavernosus reflex in patients with multiple system atrophy. ( 27118609 )
2016
46
Increased cerebellar activation after repetitive transcranial magnetic stimulation over the primary motor cortex in patients with multiple system atrophy. ( 27127756 )
2016
47
Spinal Cord Lesion by Minor Trauma as an Early Sign of Multiple System Atrophy. ( 27014185 )
2016
48
Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic. ( 27878137 )
2016
49
Medullary neuronal loss is not associated with I+-synuclein burden in multiple system atrophy. ( 27629118 )
2016
50
Posterior reversible encephalopathy syndrome in multiple system atrophy. ( 27026036 )
2016

Variations for Multiple System Atrophy

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

66 (show all 11)
id 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:

6
id 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.1028T> C (p.Val343Ala) single nucleotide variant risk factor rs397514727 GRCh37 Chromosome 4, 84188812: 84188812
3 COQ2 NM_015697.7(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh37 Chromosome 4, 84185459: 84185459
4 COQ2 NM_015697.7(COQ2): c.1160G> A (p.Arg387Gln) single nucleotide variant risk factor rs763562410 GRCh37 Chromosome 4, 84185458: 84185458

Copy number variations for Multiple System Atrophy from CNVD:

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

Expression for Multiple System Atrophy

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

Pathways for Multiple System Atrophy

GO Terms for Multiple System Atrophy

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.89 DBH DRD2 LRRK2 SQSTM1 TH
2 lysosome GO:0005764 9.83 GFAP LRRK2 SNCA SQSTM1
3 neuron projection GO:0043005 9.77 BSN LRRK2 MAP2 SLC6A3 TH
4 dendrite GO:0030425 9.73 BSN DRD2 LRRK2 MAP2 MAPT TH
5 growth cone GO:0030426 9.72 LRRK2 MAPT SNCA
6 neuronal cell body GO:0043025 9.7 LRRK2 MAP2 MAPT MBP SLC6A3 SNCA
7 perikaryon GO:0043204 9.69 DRD2 LRRK2 TH
8 synaptic vesicle GO:0008021 9.65 LRRK2 SNCA TH
9 terminal bouton GO:0043195 9.58 LRRK2 SNCA TH
10 nuclear periphery GO:0034399 9.54 MAP2 MAPT
11 autolysosome GO:0044754 9.43 LRRK2 SQSTM1
12 amphisome GO:0044753 9.32 LRRK2 SQSTM1
13 inclusion body GO:0016234 9.26 LRRK2 SNCA SNCB SQSTM1
14 axon GO:0030424 9.17 BSN DRD2 LRRK2 MAPT SLC6A3 SNCA
15 cytoplasm GO:0005737 10.27 ATXN1 BSN DBH GFAP LRRK2 MAP2

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

(show all 34)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.85 DRD2 MAOB SLC6A3 SNCA TH
2 response to toxic substance GO:0009636 9.81 DRD2 MAOB MBP
3 memory GO:0007613 9.75 DBH MAPT TH
4 response to ethanol GO:0045471 9.73 DRD2 MAOB SLC6A3 TH
5 chemical synaptic transmission GO:0007268 9.72 BSN DBH MBP SNCA SNCB
6 synapse organization GO:0050808 9.69 MAPT SNCA SNCB
7 response to nicotine GO:0035094 9.67 DRD2 SLC6A3 TH
8 locomotory behavior GO:0007626 9.67 DBH DRD2 SLC6A3 TH
9 regulation of dopamine secretion GO:0014059 9.66 DRD2 SNCA
10 behavioral response to cocaine GO:0048148 9.66 DRD2 SNCA
11 regulation of neuron death GO:1901214 9.65 LRRK2 SNCA
12 response to metal ion GO:0010038 9.65 SNCB TH
13 response to iron ion GO:0010039 9.65 DRD2 SLC6A3
14 response to cocaine GO:0042220 9.65 DRD2 SLC6A3 SNCA
15 regulation of long-term neuronal synaptic plasticity GO:0048169 9.64 DRD2 SNCA
16 response to corticosterone GO:0051412 9.64 MAOB TH
17 behavioral response to ethanol GO:0048149 9.63 DBH DRD2
18 neurotransmitter biosynthetic process GO:0042136 9.62 SLC6A3 TH
19 microglial cell activation GO:0001774 9.62 MAPT SNCA
20 prepulse inhibition GO:0060134 9.61 DRD2 SLC6A3
21 supramolecular fiber organization GO:0097435 9.61 MAPT SNCA
22 adenohypophysis development GO:0021984 9.6 DRD2 SLC6A3
23 intracellular distribution of mitochondria GO:0048312 9.59 LRRK2 MAPT
24 regulation of locomotion GO:0040012 9.58 LRRK2 SNCA
25 response to amphetamine GO:0001975 9.58 DBH DRD2 TH
26 regulation of mitochondrial fission GO:0090140 9.57 LRRK2 MAPT
27 norepinephrine biosynthetic process GO:0042421 9.56 DBH TH
28 cellular response to manganese ion GO:0071287 9.55 LRRK2 TH
29 catecholamine biosynthetic process GO:0042423 9.54 DBH TH
30 dopamine uptake involved in synaptic transmission GO:0051583 9.52 SLC6A3 SNCA
31 synaptic transmission, dopaminergic GO:0001963 9.43 DRD2 SNCA TH
32 dopamine metabolic process GO:0042417 9.33 DRD2 SNCA SNCB
33 dopamine biosynthetic process GO:0042416 9.13 SLC6A3 SNCA TH
34 dopamine catabolic process GO:0042420 8.8 DBH MAOB SLC6A3

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

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.67 MAPT SNCA SQSTM1 TH
2 microtubule binding GO:0008017 9.62 LRRK2 MAP2 MAPT SNCA
3 identical protein binding GO:0042802 9.5 ATXN1 DRD2 GFAP LRRK2 MAPT SNCA
4 ferrous iron binding GO:0008198 9.4 SNCA TH
5 tubulin binding GO:0015631 9.33 LRRK2 MAP2 MAPT
6 cuprous ion binding GO:1903136 9.26 SNCA SNCB
7 dopamine binding GO:0035240 8.8 DRD2 SLC6A3 TH

Sources for Multiple System Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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