The clinical analysis of Huntington disease：a case study from 12 genetic diagnosis families
10.3969/j.issn.1002-0152.2016.01.002
- VernacularTitle:12个亨廷顿病家系的临床特点及家系分析
- Author:
Fengjuan SU
;
Yixuan ZENG
;
Zhong PEI
;
Xiuling LIANG
;
Xunhua LI
;
Burgunder JEANMARC
- Publication Type:Journal Article
- Keywords:
Huntington disease;
Genetic test;
Neuroimaging;
Behavior problem
- From:
Chinese Journal of Nervous and Mental Diseases
2016;42(1):6-10
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical manifestation, inherited pattern and the related factor of Hunting?ton disease families. Method The clinical data from 12 HD families was collected from 2013-2014. Patients received the genetic test and neurological evaluation including motor, cognitive and problem of behavior. Results There were 12 patients having the IT15 gene dynamic mutations, including 1 Juvenile Huntington disease patient and 3 pre-symptomat?ic mutant gene carriers. The average CAG repeats of these patients was between the range of 40 to 60, and the average on?set age ranged from 13 to 54 year-old. Positive family history and genetic anticipation could be observed. Patients pre?sented with different clinical manifestations at the early stage while had typical chorea movements, declined cognitive and psychiatric symptoms at the late stage of the illness. Conclusions There are typical triad symptoms in the late stage but not in the early stage nor pre-symptom stage illness. Clinical manifestation and the neuroimaging are both of great ref?erence value, and the genetic test is essential for final diagnosis.
