Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

M. A. Nance, V. Mathias-Hagen, G. Breningstall, M. J. Wick, R. C. McGlennen

Research output: Contribution to journalArticle

81 Scopus citations

Abstract

A patient with juvenile Huntington's disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion of approximately 250 repeats-the largest CAG expansion reported within the huntingtin gene. This case emphasizes the need for communication between the diagnostic laboratory and the clinician to define the molecular genetics of unusual cases.

Original languageEnglish (US)
Pages (from-to)392-394
Number of pages3
JournalNeurology
Volume52
Issue number2
StatePublished - Jan 15 1999

ASJC Scopus subject areas

  • Clinical Neurology

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    Nance, M. A., Mathias-Hagen, V., Breningstall, G., Wick, M. J., & McGlennen, R. C. (1999). Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease. Neurology, 52(2), 392-394.