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Article

Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS.

American journal of human genetics - 1 Nov 1995

Onodera O, Oyake M, Takano H, Ikeuchi T, Igarashi S, Tsuji S

Abstract excerpt

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by genetic anticipation and variable combinations of symptoms including myoclonus, epilepsy, cerebellar ataxia, choreoathetosis, and dementia. Recently, we discovered that DRPLA is caused by unstable expansion of a CAG repeat of a gene on the short arm of chromosome 12. We determined the consensus DRPLA...

Topics

Alleles
Amino Acid Sequence
Animals
Atrophy
Base Sequence
Chromosome Mapping
Cloning, Molecular
DNA Probes
Humans
Mice
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nerve Tissue Proteins

Polymorphism, Genetic

Repetitive Sequences, Nucleic Acid

Spinocerebellar Degenerations

Source

Open in PubMed Open full text

Identifiers

PMID: 7485154
PMCID: PMC1801383

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7485154-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS.PMID 7485154Read ↗

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