spinocerebellar ataxia type 31

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene.
Super Class
autosomal dominant cerebellar ataxia
External Links
Disease Ontology
DOID:0050980
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5621 PRNP prion protein (Kanno blood group)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P04156 Major prion protein

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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