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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)