Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

Nature genetics - 1 Nov 1993

Chung M Y, Ranum L P, Duvick L A, Servadio A, Zoghbi H Y, Orr H T

Abstract excerpt

Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19-36 repeats while SCA1 alleles contain 43-81 repeats. We now show that in 63% of paternal transmissions, an increase in repeat number is observed, whereas 69% of maternal transmissions showed no change or a decrease in repeat...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to Cell Line
Share to DNA

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Primers

Share to Genes, Dominant

Share to Genetic Variation

Share to Molecular Sequence Data

Share to Repetitive Sequences, Nucleic Acid

Source

Identifiers

PMID: 8275090
DOI: 10.1038/ng1193-254

Genes

SCAI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.PMID 8275090Read ↗

Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus.Semantic proximity Read ↗

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance.Semantic proximity Read ↗

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.Semantic proximity Read ↗

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.Semantic proximity Read ↗

Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1Semantic proximity Read ↗

Spinocerebellar ataxia 1 (SCA1) in the Japanese: analysis of CAG trinucleitide repeat expansion and instability of the repeat for paternal transmission.Semantic proximity Read ↗

Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.Semantic proximity Read ↗

Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.Semantic proximity Read ↗

Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.Semantic proximity Read ↗

Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2.Semantic proximity Read ↗

CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms.Semantic proximity Read ↗

Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.