Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:cerebellum
brainstem |
| gptkbp:associatedWith |
gptkb:SCA2
gptkb:SCA3 gptkb:SCA6 |
| gptkbp:category |
neurodegenerative disease
ataxia |
| gptkbp:causedBy |
CAG trinucleotide repeat expansion
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1993
|
| gptkbp:fullName |
Spinocerebellar ataxia type 1
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCA1
|
| gptkbp:ICD-10_code |
G11.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:inheritanceRisk |
50% if one parent affected
|
| gptkbp:mutationAssociatedWith |
ATXN1 gene
|
| gptkbp:OMIM |
164400
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
progressive
|
| gptkbp:relatedTo |
polyglutamine disease
|
| gptkbp:symptom |
nystagmus
ataxia dysphagia muscle wasting dysarthria |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Spinocerebellar_Ataxia
|
| gptkbp:bfsLayer |
7
|