Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene

被引：13

作者：

Liu, Z-J ^{[1
,2
,3
,4
,5
]}

Sun, Y-M ^{[1
,2
,3
]}

Ni, W. ^{[1
,2
,3
,4
,5
]}

Dong, Y. ^{[1
,2
,3
]}

Shi, S-S ^{[1
,2
,3
]}

Wu, Z-Y ^{[1
,2
,3
]}

机构：

[1] Fudan Univ, Dept Neurol, Shanghai 200040, Peoples R China

[2] Fudan Univ, Huashan Hosp, Inst Brain Sci, Inst Neurol, Shanghai 200040, Peoples R China

[3] Fudan Univ, Shanghai Med Coll, State Key Lab Med Neurobiol, Shanghai 200040, Peoples R China

[4] Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou, Peoples R China

[5] Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Peoples R China

来源：

CLINICAL GENETICS | 2014年 / 85卷 / 02期

关键词：

CAG repeats beyond 60; Huntington's disease; HTT; AGE-OF-ONSET; JUVENILE-ONSET; LENGTH; FREQUENCY; CHILDREN; DELAY;

D O I：

10.1111/cge.12120

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Patients with Huntington's disease (HD) carrying CAG repeats beyond 60 are less frequently seen and clinical features of them have been rarely reported. We identified four unrelated patients carrying CAG repeats beyond 60 (84.0 +/- 13.76, ranging from 74 to 104) from 119 Chinese HD patients via direct sequencing. These four were all early onset with a mean age at presenting symptom of 9.8 +/- 1.71years. Paternal transmission was found in three of them and the fourth was apparently sporadic. In addition, they had atypical onset symptoms including epilepsy, intellectual decline, tics and walking instability, which might lead the clinicians to make the wrong diagnosis in the early stage of disease. Our work explores clinical features of Chinese HD patients with an expanded CAG repeat over 60 and may help the clinicians make a correct diagnosis in the early stage of disease.

引用

页码：189 / 193

页数：5

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