MCID: SPN187
MIFTS: 23

Spinocerebellar Atrophy

Categories: Neuronal diseases

Aliases & Classifications for Spinocerebellar Atrophy

MalaCards integrated aliases for Spinocerebellar Atrophy:

Name: Spinocerebellar Atrophy 53 29 6
Ataxia, Spinocerebellar 70

Classifications:



External Ids:

UMLS 70 C0087012

Summaries for Spinocerebellar Atrophy

NINDS : 53 Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis. Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person’s nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration. Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant,in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; andautosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreich’s ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history. Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.

MalaCards based summary : Spinocerebellar Atrophy, also known as ataxia, spinocerebellar, is related to autosomal dominant cerebellar ataxia and 3-methylglutaconic aciduria, type iii, and has symptoms including ataxia and cerebellar ataxia. An important gene associated with Spinocerebellar Atrophy is LRRK2 (Leucine Rich Repeat Kinase 2). Affiliated tissues include cerebellum and eye, and related phenotype is pigmentation.

Related Diseases for Spinocerebellar Atrophy

Graphical network of the top 20 diseases related to Spinocerebellar Atrophy:



Diseases related to Spinocerebellar Atrophy

Symptoms & Phenotypes for Spinocerebellar Atrophy

UMLS symptoms related to Spinocerebellar Atrophy:


ataxia; cerebellar ataxia

MGI Mouse Phenotypes related to Spinocerebellar Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 LRRK2 POLG

Drugs & Therapeutics for Spinocerebellar Atrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Investigation of the Pre-movement Facilitation of Agonist-antagonist Muscles and the Effect of the Feedforward Rehabilitation in Individuals With Hypermetria Completed NCT01983670
2 The Effect of Functional Trunk Training on Trunk Control and Upper Extremity Functions in Hereditary Ataxia Patients With Autosomal Recessive Active, not recruiting NCT04740359

Search NIH Clinical Center for Spinocerebellar Atrophy

Genetic Tests for Spinocerebellar Atrophy

Genetic tests related to Spinocerebellar Atrophy:

# Genetic test Affiliating Genes
1 Spinocerebellar Atrophy 29

Anatomical Context for Spinocerebellar Atrophy

MalaCards organs/tissues related to Spinocerebellar Atrophy:

40
Cerebellum, Eye

Publications for Spinocerebellar Atrophy

Articles related to Spinocerebellar Atrophy:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 6
28492532 2017
2
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 6
24091540 2013
3
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 6
21880868 2011
4
Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. 6
20176107 2010
5
A variable neurodegenerative phenotype with polymerase gamma mutation. 6
19762913 2009
6
R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 6
19364868 2009
7
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 6
18546365 2008
8
Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease. 6
18412265 2008
9
LRRK2 Parkinson Disease 6
20301387 2006
10
Systematic Review: Quantitative Susceptibility Mapping (QSM) of Brain Iron Profile in Neurodegenerative Diseases. 61
33679303 2021
11
CHIP promotes Wnt signaling and regulates Arc stability by recruiting and polyubiquitinating LEF1 or Arc. 61
33431799 2021
12
Snx14 proximity labeling reveals a role in saturated fatty acid metabolism and ER homeostasis defective in SCAR20 disease. 61
33310904 2020
13
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin. 61
32999401 2020
14
Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations. 61
32870032 2020
15
Induced Pluripotent Stem Cell (iPSC)-Based Neurodegenerative Disease Models for Phenotype Recapitulation and Drug Screening. 61
32344649 2020
16
Spinocerebellar Atrophy Type-3 with Chiari Malformation in a Young Man: A Case Report. 61
32322798 2020
17
Differential toxicity of ataxin-3 isoforms in Drosophila models of Spinocerebellar Ataxia Type 3. 61
31310802 2019
18
Degenerative and acquired sporadic adult onset ataxia. 61
30927137 2019
19
Glutamate Dehydrogenase as a Neuroprotective Target Against Neurodegeneration. 61
29357018 2019
20
Role of non-coding RNAs in non-aging-related neurological disorders. 61
29898036 2018
21
Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6. 61
28791574 2018
22
Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities. 61
29458882 2018
23
Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models. 61
28624196 2017
24
Impact of cerebellar atrophy on cortical gray matter and cerebellar peduncles as assessed by voxel-based morphometry and high angular resolution diffusion imaging. 61
28072384 2016
25
Hypertrophic Cardiomyopathy Accompanied by Spinocerebellar Atrophy With a Novel Mutation in Troponin I Gene. 61
27385602 2016
26
Structural and Functional Magnetic Resonance Imaging of the Cerebellum: Considerations for Assessing Cerebellar Ataxias. 61
26521073 2016
27
Ubiquitin-binding site 2 of ataxin-3 prevents its proteasomal degradation by interacting with Rad23. 61
25144244 2014
28
[Twenty cases of spinocerebellar atrophy treated by multi-needling in rows at occiput]. 61
25112110 2014
29
Novel neuronal cytoplasmic inclusions in a patient carrying SCA8 expansion mutation. 61
23711133 2014
30
Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells. 61
24218544 2014
31
Branching enzyme deficiency: expanding the clinical spectrum. 61
24248152 2014
32
It may be possible to delay the onset of neurodegenerative diseases with an immunosuppressive drug (rapamycin). 61
23668915 2013
33
FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease. 61
23031666 2012
34
Difference in the effects of tandospirone on ataxia in various types of spinocerebellar degeneration: an open-label study. 61
20809107 2010
35
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. 61
18602318 2009
36
Glycine transporter blockade ameliorates motor ataxia in a mouse model of spinocerebellar atrophy. 61
19270429 2009
37
[RNA pathologies in neurological disorders]. 61
18210802 2007
38
R659S mutation of gammaPKC is susceptible to cell death: implication of this mutation/polymorphism in the pathogenesis of retinitis pigmentosa. 61
16828200 2006
39
Predominant motor symptoms in a 74-year-old man with a small elongation in the spinocerebellar atrophy type 1 gene. 61
16961076 2006
40
TDP1-dependent DNA single-strand break repair and neurodegeneration. 61
16775218 2006
41
Taltirelin improves motor ataxia independently of monoamine levels in rolling mouse nagoya, a model of spinocerebellar atrophy. 61
16327158 2005
42
Primary neurologic screening and motor coordination of Dstdt-J mutant mice (dystonia musculorum) with spinocerebellar atrophy. 61
16087202 2005
43
Molecular genetics of spinocerebellar ataxia type 8 (SCA8). 61
14526178 2003
44
PQBP-1 increases vulnerability to low potassium stress and represses transcription in primary cerebellar neurons. 61
12051705 2002
45
[Familial hemiplegic migraine]. 61
15775664 2001
46
Similar oculomotor phenotypes in episodic ataxia type 2 and spinocerebellar atrophy type 6. 61
11710502 2001
47
Behavioral and biochemical effects of L-tryptophan and buspirone in a model of cerebellar atrophy. 61
11509189 2001
48
Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1. 61
10752579 2000
49
Electrophysiological features of central motor conduction in spinocerebellar atrophy type 1, type 2, and Machado-Joseph disease. 61
9771779 1998
50
Brain phospholipids and fatty acids in Friedreich's ataxia and spinocerebellar atrophy type-1. 61
9756151 1998

Variations for Spinocerebellar Atrophy

ClinVar genetic disease variations for Spinocerebellar Atrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLG NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) SNV Pathogenic 206537 rs201477273 GRCh37: 15:89864088-89864088
GRCh38: 15:89320857-89320857
2 LRRK2 NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) SNV Pathogenic 39198 rs33949390 GRCh37: 12:40713845-40713845
GRCh38: 12:40320043-40320043

Expression for Spinocerebellar Atrophy

Search GEO for disease gene expression data for Spinocerebellar Atrophy.

Pathways for Spinocerebellar Atrophy

GO Terms for Spinocerebellar Atrophy

Cellular components related to Spinocerebellar Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 terminal bouton GO:0043195 8.62 POLG LRRK2

Sources for Spinocerebellar Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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