Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 13-10-2016

Symbol	SCAAR1
Location	11p15
HGNC id	32978
Name	spinocerebellar ataxia 1
Other name(s)	spinocerebellar ataxia, autosomal recessive 7
Corresponding gene	TPP1
Other symbol(s)	SCAR7
Main clinical features	childhood-onset, slowly progressive spinocerebellar ataxia. pure with cerebellar ataxia, posterior column involvement, deep sensory loss, postural tremor at the IRM, atrophy of the cerebellum, vermis, pons, and medulla oblongata
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)