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

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

96 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
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 - 14 Oct 2003

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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.",

author = "Walker, \{Ruth H.\} and A. Rasmussen and D. Rudnicki and Holmes, \{S. E.\} and E. Alonso and T. Matsuura and T. Ashizawa and B. Davidoff-Feldman and Margolis, \{R. L.\}",

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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.

UR - https://www.scopus.com/pages/publications/0141924715

U2 - 10.1212/01.WNL.0000085866.68470.6D

DO - 10.1212/01.WNL.0000085866.68470.6D

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AN - SCOPUS:0141924715

SN - 0028-3878

VL - 61

SP - 1002

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JO - Neurology

JF - Neurology

IS - 7

ER -

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

Abstract

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