Clinical and Genetic Profiles in Chinese Patients with Huntington's Disease: A Ten-year Multicenter Study in China.

Li, Hong-Lei; Li, Xiao-Yan; Dong, Yi; Zhang, Yan-Bin; Cheng, Hong-Rong; Gan, Shi-Rui; Liu, Zhi-Jun; Ni, Wang; Burgunder, Jean-Marc; Yang, X William; Wu, Zhi-Ying (2019). Clinical and Genetic Profiles in Chinese Patients with Huntington's Disease: A Ten-year Multicenter Study in China. Aging and disease, 10(5), pp. 1003-1011. Aging and Disease 10.14336/AD.2018.0911

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Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG triplet repeats expansion in exon 1 of the Huntingtin gene (HTT). In China, HD is considered to have a low prevalence. The goal of this study was to describe the clinical characteristic and genetic profiles of HD in a Chinese cohort. A total of 322 individuals with expanded CAG repeats were consecutively recruited from the neurologic clinics of three medical centers in Southeastern China between 2008 and 2018. Among them, 80 were pre-symptomatic mutation carriers and 242 were symptomatic patients. The mean age at onset (AAO), defined here as the age at motor symptom onset, of the 242 manifest HD individuals was 40.3 ± 11.9 years and the mean CAG repeat length was 46.1 ± 7.5 in the group of symptomatic patients. Initial symptoms were abnormal movements in 88.8% of the patients with psychiatric symptoms in 6.2%, cognitive impairment in 3.3% and others in 1.7%. The AAO of motor was negatively correlated with the CAG repeat length in an exponential regression analysis (R 2 = 0.74, P<0.001). Analysis of 46 parent-child pairs showed that the CAG repeat length was longer in the offspring group (45.8 ±7.6) than in the parent group (43.8 ±3.0) (p=0.005). Overall, this study provides clinical and genetic profiles in a cohort of Chinese patients with HD, which should contribute to a better understanding of this disorder.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Burgunder, Jean-Marc

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2152-5250

Publisher:

Aging and Disease

Language:

English

Submitter:

Chantal Kottler

Date Deposited:

30 Dec 2019 10:15

Last Modified:

30 Dec 2019 10:15

Publisher DOI:

10.14336/AD.2018.0911

PubMed ID:

31595198

Uncontrolled Keywords:

Chinese population Huntington’s disease genotype phenotype

BORIS DOI:

10.7892/boris.136826

URI:

https://boris.unibe.ch/id/eprint/136826

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