spinocerebellar ataxia type 25

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:0050974
Mondo Disease Ontology
MeSH
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
87178 PNPT1 polyribonucleotide nucleotidyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
71701 Pnpt1 polyribonucleotide nucleotidyltransferase 1

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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: December 9, 2024