The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA)

Diagnostic implications of confirmatory and predictive testing

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

D entatorubral-pallidoluysian atroph3 (DRPLA) is a rare neurodegenerative disorder characterlsed by variability in both age of onset and clinical features. Despite the recent identification of the CAG expansion mutation in DRPLA, the numbel of molecularly confirmed cases remain., small. Given its rarity and prominenl phenotypic heterogeneity, some care need, to be exercised in the interpretation anc dissemination of test results derived frorr direct gene testing for the DRPLA specific expansion mutation.

Original languageEnglish (US)
Pages (from-to)168-170
Number of pages3
JournalJournal of Medical Genetics
Volume33
Issue number2
StatePublished - Dec 1 1996
Externally publishedYes

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Progressive Myoclonic Epilepsy
Age of Onset
Mutation
Neurodegenerative Diseases
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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title = "The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): Diagnostic implications of confirmatory and predictive testing",
abstract = "D entatorubral-pallidoluysian atroph3 (DRPLA) is a rare neurodegenerative disorder characterlsed by variability in both age of onset and clinical features. Despite the recent identification of the CAG expansion mutation in DRPLA, the numbel of molecularly confirmed cases remain., small. Given its rarity and prominenl phenotypic heterogeneity, some care need, to be exercised in the interpretation anc dissemination of test results derived frorr direct gene testing for the DRPLA specific expansion mutation.",
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AB - D entatorubral-pallidoluysian atroph3 (DRPLA) is a rare neurodegenerative disorder characterlsed by variability in both age of onset and clinical features. Despite the recent identification of the CAG expansion mutation in DRPLA, the numbel of molecularly confirmed cases remain., small. Given its rarity and prominenl phenotypic heterogeneity, some care need, to be exercised in the interpretation anc dissemination of test results derived frorr direct gene testing for the DRPLA specific expansion mutation.

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