Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 23/09/2008

Symbol	ADS
Location	Xq22.1
HGNC id	32975
Name	ataxia-dementia syndrome
Other name(s)	spinocerebellar ataxia, X-linked 4
Corresponding gene	TIMM8A
Other symbol(s)	SCAX4
Main clinical features	ataxia, pyramidal tract signs and adult-onset dementia early onset, with delayed walking and tremor, progressive ataxia and pyramidal signs; memory problems in the third decade initiated a progressive dementia, leading to death in the sixth decade
Genetic determination	sex linked
Function/system disorder	neurology
	psychiatric disorder
Type	disease

Gene product

Name	insertion in DDP protein (TIMM8A)

Remark(s)