title: Clinical and genetic characteristics in patients with Huntington's disease from China.
abstract: 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.
authors.affiliation: a Department of Neurology, West China Hospital , Sichuan University , Chengdu , China.
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.affiliation: a Department of Neurology, West China Hospital , Sichuan University , Chengdu , China.
authors.forename: Ke
authors.initials: K
authors.lastname: Chen
authors.affiliation: a Department of Neurology, West China Hospital , Sichuan University , Chengdu , China.
authors.forename: Qianqian
authors.initials: Q
authors.lastname: Wei
authors.affiliation: a Department of Neurology, West China Hospital , Sichuan University , Chengdu , China.
authors.forename: Yongping
authors.initials: Y
authors.lastname: Chen
authors.affiliation: a Department of Neurology, West China Hospital , Sichuan University , Chengdu , China.
authors.forename: Bei
authors.initials: B
authors.lastname: Cao
authors.affiliation: a Department of Neurology, West China Hospital , Sichuan University , Chengdu , China.|b Department of Neurology , University of Bern , Bern , Switzerland.
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Burgunder
authors.affiliation: a Department of Neurology, West China Hospital , Sichuan University , Chengdu , China.
authors.forename: Hui-Fang
authors.initials: HF
authors.lastname: Shang
mesh_terms: D000328:Adult; D002681:China / Q000453:epidemiology; D003072:Cognition Disorders / Q000209:etiology* / Q000235:genetics; D005260:Female; D006801:Humans; D000071058:Huntingtin Protein / Q000235:genetics*; D006816:Huntington Disease / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D019964:Mood Disorders / Q000209:etiology* / Q000235:genetics; D015995:Prevalence; D011569:Psychiatric Status Rating Scales; D012189:Retrospective Studies; D012720:Severity of Illness Index; D013223:Statistics as Topic; D018911:Trinucleotide Repeats / Q000235:genetics*; D055815:Young Adult
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein
keywords: Behavioural symptoms; CAG repeats; Huntington’s disease; Neuropsychiatry; Unified Huntington’s disease rating scale