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

doi:10.1101/gr.6.9.870

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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 linke...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 10
Female
Finland
Haplotypes
Humans
Infant
Male
Mutation
Pedigree
Polymorphism, Genetic
Spinocerebellar Degenerations

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