Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 15-10-2013

Symbol	IOSCA
Location	10q24.31
HGNC id	6103
Name	infantile-onset spinocerebellar ataxia
Other name(s)	ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis Ohaha syndrome spinocerebellar ataxia, infantile, with sensory neuropathy mitochondrial DNA depletion syndrome 7
Corresponding gene	C10orf2
Other symbol(s)	SCA8, MTDPS7
Main clinical features	member of the mitochondrial DNA depletion syndromes characterized by onset between one and two years by clumsiness and loss of ability to walk, ataxia, athetosis, muscle hypotonia with loss of deep tendon reflexes, ophthalmoplegia and deafness by school age and sensory neuropathy at adolescence neuronal complex I (CI)-defect ((Hakonen 2008)
Genetic determination	autosomal recessive
Function/system disorder	ear
	neurology
	eye
Type	disease

Gene product

Name	Twinckle or truncated mutant Twinky

Remark(s)

Y508C change in the mitochondrial helicase Twinkle, in its helicase domain, and dysfunction affects mtDNA maintenance in a highly context and cell-type specific manner (Hakonen 2008)