Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 07-03-2023

Symbol	ATCAD2
Location	13q33.1
Name	cerebellar ataxia, pure, adulte -onset 2
Corresponding gene	FGF14
Main clinical features	pure cerebellar ataxia with bilateral vestibulopathy (CABV), with the variable presence of other features including hyper-reflexia and autonomic dysfunction age at onser >40, with gait ataxia and ocular abnormalities, variable presence of other features including hyper-reflexia and autonomic dysfunction
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)

. heterozygous (GAA)n repeat expansion (RE) located in intron 1 of FGF14 is a common cause of adult-onset ataxia, with (GAA)>250 ; negative correlation between age at onset and repeat length (PMID: 36493768))