'Clinical profile of genetically proven huntington's disease patients from Eastern India'
| العنوان: | 'Clinical profile of genetically proven huntington's disease patients from Eastern India' |
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| المؤلفون: | Anindita Joardar, Adreesh Mukherjee, Sarnava Roy, Uma Sinharoy, Shyamal Kumar Das, Deb Sankar Guin, Atanu Biswas, Goutam Ganguly, Zakir Hussain |
| المصدر: | Annals of Indian Academy of Neurology, Vol 23, Iss 2, Pp 195-200 (2020) Annals of Indian Academy of Neurology |
| بيانات النشر: | Wolters Kluwer Medknow Publications, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, huntington's disease, Cross-sectional study, lcsh:RC346-429, cognitive, 03 medical and health sciences, 0302 clinical medicine, Huntington's disease, medicine, 030212 general & internal medicine, Neuropsychological assessment, Family history, Depression (differential diagnoses), lcsh:Neurology. Diseases of the nervous system, onset symptom, Dystonia, behavioral, medicine.diagnostic_test, business.industry, Chorea, medicine.disease, motor, Anxiety, Original Article, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery |
| 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. |
| اللغة: | English |
| تدمد: | 1998-3549 0972-2327 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42a5264ca3454f9202a25aff0e4b1ee http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=2;spage=195;epage=200;aulast= |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....c42a5264ca3454f9202a25aff0e4b1ee |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19983549 09722327 |
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