Spinocerebellar Ataxia, Autosomal Recessive 3

Clinical Features

Van Bogaert and Martin (1974) and Spoendlin (1974) described a recessively inherited spinocerebellar ataxia of uncertain classification with optic and cochlear degeneration leading to blindness and deafness. Presumably this was not the Refsum syndrome (266500), which has similar manifestations.

Koenig (2001) concluded that the same disorder was present in the consanguineous Israeli family that he studied with Bomont et al. (2000). An Israeli uncle and niece were affected by an early-onset recessive ataxia and subsequently developed hearing impairment and optic atrophy.

Mapping

By homozygosity mapping in a consanguineous family with early-onset spinocerebellar ataxia and subsequent hearing impairment and optic atrophy, Bomont et al. (2000) found linkage of the disorder to chromosome 6p23-p21 with a lod score of 3.25.