Clinical and genetic analyses of one juvenile-onset Huntington disease family
10.3760/cma.j.issn.1671-8925.2018.03.016
- VernacularTitle:青少年型亨廷顿病一家系临床特征及遗传学特点分析
- Author:
Lijun WANG
1
;
Jianping WANG
;
Yanliang NIU
;
Yan JIANG
Author Information
1. 郑州大学第五附属医院神经内科
- Keywords:
Juvenile;
Huntington disease;
IT15 gene;
Clinical manifestation
- From:
Chinese Journal of Neuromedicine
2018;17(3):306-308
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical and genetic features of juvenile-onset Huntington disease (HD).Methods The clinical data of members from one juvenile-onset HD family,admitted to our hospital in February 2015,were collected,and the family pedigree tree was drawn.Peripheral venous blood of volunteers of this family was extracted to pursue IT15 genetic test.Results The pedigree tree indicated that HD was autosomal dominant inheritance.There were 3 patients in this family,2 of them died,and 2 were juvenile-onset HD.Clinical manifestations of these patients were characterized by dystonia,dysarthria,ataxia and cognitive dysfunction.Among 7 participants who pursued genetic test,4 were normal,and 3 carried expanded alleles,whose cytosine-adenine-guanine trinucleotide (CAG) repeat number was 59,60,and 57,respectively.Conclusions (1) The clinical manifestations of juvenile-onset HD are characterized by dystonia,dysarthria,ataxia and cognitive dysfunction;juvenile-onset HD has rapid progression.(2) The phenomenon called "anticipation" is found in this family.
