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Article

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.

Human molecular genetics - 1 Aug 1995

Holmberg M, Johansson J, Forsgren L, Heijbel J, Sandgren O, Holmgren G

Abstract excerpt

We present linkage analysis on a large Swedish five-generation family of 15 affected individuals with autosomal dominant cerebellar ataxia (ADCA) associated with retinal degeneration and anticipation. Common clinical signs in this family include ataxia, dysarthria and severely impaired vision with the phenotype ADCA type II. Different subtypes of ADCA have proven difficult to classify clinically due to extensive...

Topics

Cerebellar Ataxia
Chromosomes, Human, Pair 3
Female
Genes, Dominant
Genetic Linkage
Humans
Male
Microsatellite Repeats
Pedigree
Phenotype
Retinal Degeneration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Trinucleotide Repeats

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Identifiers

PMID: 7581386
DOI: 10.1093/hmg/4.8.1441

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7581386-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.PMID 7581386Read ↗

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