Huntington's disease-like 2 can present as chorea-acanthocytosis

Ruth H. Walker, A. Rasmussen, D. Rudnicki, S. E. Holmes, E. Alonso, T. Matsuura, T. Ashizawa, B. Davidoff-Feldman, Russell Louis Margolis

Research output: Contribution to journalArticle

Abstract

Three patients from a previously described family with autosomal dominant chorea-acanthocytosis were found to have the CTG trinucleotide repeat expansion mutation of thejunctophilin-3 gene associated with Huntington's disease-like 2 (HDL2). One of six previously identified patients with HDL2 had acanthocytosis on peripheral blood smear, suggesting that HDL2 should be considered in the differential of chorea-acanthocytosis.

Original languageEnglish (US)
Pages (from-to)1002-1004
Number of pages3
JournalNeurology
Volume61
Issue number7
StatePublished - Oct 14 2003

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Neuroacanthocytosis
Abetalipoproteinemia
Trinucleotide Repeat Expansion
Mutation
Genes
Huntington Disease-Like 2

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., ... Margolis, R. L. (2003). Huntington's disease-like 2 can present as chorea-acanthocytosis. Neurology, 61(7), 1002-1004.

Huntington's disease-like 2 can present as chorea-acanthocytosis. / Walker, Ruth H.; Rasmussen, A.; Rudnicki, D.; Holmes, S. E.; Alonso, E.; Matsuura, T.; Ashizawa, T.; Davidoff-Feldman, B.; Margolis, Russell Louis.

In: Neurology, Vol. 61, No. 7, 14.10.2003, p. 1002-1004.

Research output: Contribution to journalArticle

Walker, RH, Rasmussen, A, Rudnicki, D, Holmes, SE, Alonso, E, Matsuura, T, Ashizawa, T, Davidoff-Feldman, B & Margolis, RL 2003, 'Huntington's disease-like 2 can present as chorea-acanthocytosis', Neurology, vol. 61, no. 7, pp. 1002-1004.
Walker RH, Rasmussen A, Rudnicki D, Holmes SE, Alonso E, Matsuura T et al. Huntington's disease-like 2 can present as chorea-acanthocytosis. Neurology. 2003 Oct 14;61(7):1002-1004.
Walker, Ruth H. ; Rasmussen, A. ; Rudnicki, D. ; Holmes, S. E. ; Alonso, E. ; Matsuura, T. ; Ashizawa, T. ; Davidoff-Feldman, B. ; Margolis, Russell Louis. / Huntington's disease-like 2 can present as chorea-acanthocytosis. In: Neurology. 2003 ; Vol. 61, No. 7. pp. 1002-1004.
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