Clinical and genetic characteristics in patients with Huntington’s disease from China
| العنوان: | Clinical and genetic characteristics in patients with Huntington’s disease from China |
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| المؤلفون: | Yongping Chen, Ke Chen, Jean-Marc Burgunder, Qianqian Wei, Jing Yang, Bei Cao, Huifang Shang |
| المصدر: | Neurological Research. 38:916-920 |
| بيانات النشر: | Informa UK Limited, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, China, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Statistics as Topic, Disease, 030105 genetics & heredity, Irritability, Neuropsychiatry, Severity of Illness Index, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Trinucleotide Repeats, Huntington's disease, Rating scale, Internal medicine, Prevalence, medicine, Humans, Apathy, Psychiatry, Retrospective Studies, Psychiatric Status Rating Scales, Huntingtin Protein, Mood Disorders, General Medicine, Middle Aged, medicine.disease, Huntington Disease, Neurology, Anxiety, Female, Neurology (clinical), Age of onset, medicine.symptom, Cognition Disorders, Psychology, 030217 neurology & neurosurgery |
| الوصف: | 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. |
| تدمد: | 1743-1328 0161-6412 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72ff3cb438c946fb28c367f3d25035a4Test https://doi.org/10.1080/01616412.2016.1214555Test |
| رقم الانضمام: | edsair.doi.dedup.....72ff3cb438c946fb28c367f3d25035a4 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17431328 01616412 |
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