spinocerebellar ataxia type 8

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene.
Super Class
autosomal dominant cerebellar ataxia
External Links
Disease Ontology
DOID:0050959
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P49585 Choline-phosphate cytidylyltransferase A

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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