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GENATLAS PHENOTYPE

last update : 11/02/2008

Symbol	SCA16
Location	3p26.1
Name	spinocerebellar ataxia 16
Corresponding gene	ITPR1
Main clinical features	. pure cerebellar ataxia, onset from 20 to 66 years, at MRI cerebellar atrophy without brainstem involvement
Genetic determination	autosomal dominant
Function/system disorder
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
deletion		haploinsufficiency	genomic deletion

Remark(s)

same condition as SCA15