Clinical and genetic characteristics in patients with Huntington's disease from China.

Yang, Jing; Chen, Ke; Wei, Qianqian; Chen, Yongping; Cao, Bei; Burgunder, Jean-Marc; Shang, Hui-Fang (2016). Clinical and genetic characteristics in patients with Huntington's disease from China. Neurological research, 38(10), pp. 916-920. Maney 10.1080/01616412.2016.1214555

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Huntington's disease (HD) is a neurodegenerative disease caused by the expansion of unstable CAG repeats in the HTT gene. There are scarce data about HD in China. Fifty-eight HD patients were consecutively recruited and assessed using the Unified HD Rating Scale (UHDRS) motor section and UHDRS behaviour assessment (UHDRS-b). Genetic analyses were also conducted. Thirty-three women and Twenty -five men were diagnosed with a mean age of 46.1 ± 11.2 years and a mean number of CAG triplet repeats 44.6 ± 4.4. CAG triplet repeat number was negatively correlated with age at onset, and positively correlated with UHDRS-b total score, and its subdomains including depressed mood, low self-esteem, anxiety and irritability. On the other hand, negative correlations were identified between age at onset and UHDRS-b total score, and its subdomains include low self-esteem, anxiety, suicidal thought, irritability and apathy. Disease durations were correlated with UHDRS motor scores and anxiety domain of UHDRS-b. This is the largest series of Chinese HD patients with demographic, clinical and genetic data confirms the demographic features of Chinese HD patients are comparable to those in other ethnic backgrounds. CAG triplet repeat number may also predict the severity of behaviour problems in HD patients besides its predication for age of onset.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DCR Unit Sahli Building > Forschungsgruppe Neurologie
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:

0161-6412

Publisher:

Maney

Language:

English

Submitter:

Stefanie Hetzenecker

Date Deposited:

04 Jun 2018 11:48

Last Modified:

04 Jun 2018 11:48

Publisher DOI:

10.1080/01616412.2016.1214555

PubMed ID:

27483361

Uncontrolled Keywords:

Behavioural symptoms CAG repeats Huntington’s disease Neuropsychiatry Unified Huntington’s disease rating scale

URI:

https://boris.unibe.ch/id/eprint/102131

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