亨廷顿舞蹈症样2型可表现为舞蹈病性棘红细胞增多症。

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

作者信息

Walker R H, Rasmussen A, Rudnicki D, Holmes S E, Alonso E, Matsuura T, Ashizawa T, Davidoff-Feldman B, Margolis R L

机构信息

Department of Neurology, Veterans Affairs Medical Center, Bronx, NY, USA.

出版信息

Neurology. 2003 Oct 14;61(7):1002-4. doi: 10.1212/01.wnl.0000085866.68470.6d.

DOI:10.1212/01.wnl.0000085866.68470.6d

PMID:14557581

Abstract

Three patients from a previously described family with autosomal dominant chorea-acanthocytosis were found to have the CTG trinucleotide repeat expansion mutation of the junctophilin-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.

摘要

在一个先前描述的患有常染色体显性遗传性舞蹈病-棘红细胞增多症的家族中，发现三名患者携带与亨廷顿病样2型（HDL2）相关的连接蛋白3基因的CTG三核苷酸重复扩增突变。在先前确定的六名HDL2患者中，有一名在外周血涂片上出现棘红细胞增多，这表明在舞蹈病-棘红细胞增多症的鉴别诊断中应考虑HDL2。