spinocerebellar ataxia type 1

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.
Super Class
autosomal dominant cerebellar ataxia
External Links
Disease Ontology
DOID:0050954
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
847 CAT catalase
2739 GLO1 glyoxalase I
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
60481 ELOVL5 ELOVL fatty acid elongase 5

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024