Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat

Spiridon Papapetropoulos, Roberto Lopez-Alberola, Lisa Baumbach, Angela Russell, Manuel A. Gonzalez, Brian C. Bowen, Carlos Singer

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108-repeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis.

Original languageEnglish (US)
Pages (from-to)1380-1383
Number of pages4
JournalMovement Disorders
Volume20
Issue number10
DOIs
StatePublished - Oct 1 2005

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Keywords

  • CAG repeat expansion
  • Huntington's disease
  • Maternal transmission

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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