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Article

Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus.

Genome research - 1 Sept 1996

Varilo T, Nikali K, Suomalainen A, Lönnqvist T, Peltonen L

Abstract excerpt

Infantile onset spinocerebellar ataxia (IOSCA) is a progressive neurological syndrome exhibiting an autosomal recessive pattern of inheritance. The characteristic features were described in Finland in the beginning of 1990s. Having shown that IOSCA does not segregate with any of the markers linked to other hereditary ataxias and thus represents a genetically distinct disease, we assigned the locus of this new...

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PMID: 8889554
DOI: 10.1101/gr.6.9.870

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