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Article

Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias.

Pediatric research - 1 Nov 1994

Nikali K, Koskinen T, Suomalainen A, Pihko H, Peltonen L

Abstract excerpt

Hereditary ataxias are a heterogeneous group of progressive neurodegenerative disorders characterized by symptoms and signs originating mainly in the CNS. A new representative of this disease group is infantile onset spinocerebellar ataxia, an autosomal recessively inherited syndrome so far reported only in the genetically isolated Finnish population. The etiology of hereditary ataxias still remains unknown, but...

Topics

Age of Onset
Alleles
Chromosome Mapping
Chromosomes, Human, Pair 8
Computer Simulation
DNA, Satellite
Female
Finland
Genetic Linkage
Genetic Markers
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Lod Score

Male

Pedigree

Spinocerebellar Degenerations

Source

Identifiers

PMID: 7877879
DOI: 10.1203/00006450-199411000-00012

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7877879-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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