cerebellar ataxia type 42

Summary
Synonym
  • SCA42
Definition
An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21.
Super Class
autosomal dominant cerebellar ataxia
External Links
Disease Ontology
DOID:0111742
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8913 CACNA1G calcium voltage-gated channel subunit alpha1 G
Displaying 1 entry
Gene ID Gene Symbol Description Source
12291 Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit

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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