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; R. L. Margolis

doi:10.1212/01.WNL.0000085866.68470.6D

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, R. L. Margolis

School of Medicine

Research output: Contribution to journal › Article › peer-review

79 Scopus citations

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 language	English (US)
Pages (from-to)	1002-1004
Number of pages	3
Journal	Neurology
Volume	61
Issue number	7
DOIs	https://doi.org/10.1212/01.WNL.0000085866.68470.6D
State	Published - Oct 14 2003

ASJC Scopus subject areas

Clinical Neurology

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title = "Huntington's disease-like 2 can present as chorea-acanthocytosis",

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.",

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AU - Walker, Ruth H.

AU - Rasmussen, A.

AU - Rudnicki, D.

AU - Holmes, S. E.

AU - Alonso, E.

AU - Matsuura, T.

AU - Ashizawa, T.

AU - Davidoff-Feldman, B.

AU - Margolis, R. L.

PY - 2003/10/14

Y1 - 2003/10/14

N2 - 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.

AB - 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.

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

Abstract

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