دورية أكاديمية
أعرض في EDS

'Clinical profile of genetically proven huntington's disease patients from Eastern India'

التفاصيل البيبلوغرافية
العنوان: 'Clinical profile of genetically proven huntington's disease patients from Eastern India'
المؤلفون: Zakir Hussain, Adreesh Mukherjee, Goutam Ganguly, Anindita Joardar, Sarnava Roy, Deb Sankar Guin, Uma Sinharoy, Atanu Biswas, Shyamal Kumar Das
المصدر: Annals of Indian Academy of Neurology, Vol 23, Iss 2, Pp 195-200 (2020)
بيانات النشر: Wolters Kluwer Medknow Publications, 2020.
سنة النشر: 2020
المجموعة: LCC:Neurology. Diseases of the nervous system
مصطلحات موضوعية: behavioral, cognitive, huntington's disease, motor, onset symptom, Neurology. Diseases of the nervous system, RC346-429
الوصف: Background and Aims: To study the clinical profile of genetically proven Huntington's disease (HD) patients from eastern India. Methods: This cross sectional study selected patients of HD after genetic confirmation of expanded CAG repeats in Huntingtin (HTT) gene. We performed detail clinical evaluation including cognitive and neuropsychological assessment, and imaging of brain. Results: This study included 75 patients (male: 57.3%; female: 42.7%). Mean age at onset was 37.12 (range 16-62) years; juvenile variety (onset below 20 years) was detected in 5.3%. Paternal transmission was commoner. Manifestations at onset were motor in 81.3% patients, behavioral in 10.7% and cognitive impairment in 8%. After chorea, next common movement disorder was dystonia. Frontal lobe dysfunction was found in 77.3% patients. Behavioral disturbances were observed in 77.3% patients and commonly manifested as depression, irritable behavior and anxiety. Among the three onset groups (motor/behavioral/cognitive), there was no significant difference regarding age at onset, gender distribution, pattern of inheritance (paternal/maternal), and at the time of evaluation, all groups had essentially similar pattern of clinical features. Mean CAG repeat of the patients was 48.25 (range 40-79). Our study showed some differing clinical characteristics compared to previous studies from the Indian subcontinent. Conclusion: Clinical features in our study showed differences from previous studies from the Indian subcontinent. We had more cognitive-onset patients. However, behavioral onset was lower in our study. Motor, behavioral and cognitive onset groups of HD were comparable regarding demographics, family history, CAG repeat lengths and major clinical features at the time of evaluation.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 0972-2327
1998-3549
Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=2;spage=195;epage=200;aulast=; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549
DOI: 10.4103/aian.AIAN_505_19
URL الوصول: https://doaj.org/article/691555b54fed452295581869c8337b2d
رقم الأكسشن: edsdoj.691555b54fed452295581869c8337b2d
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:09722327
19983549
DOI:10.4103/aian.AIAN_505_19