Murgod, Uday A and Saleem, Quasar and Anand, A and Brahmachari, SK and Jain, Sanjeev and Muthane, Uday B (2001) A clinical study of patients with genetically confirmed Huntington's disease from India. In: Journal of the Neurological Sciences, 190 (1-2). pp. 73-78.
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Clinical data across the globe especially in genetic diseases like Huntington’s disease (HD) is most helpful when collected using standardized formats. This helps in proper comparison of clinical and genetic data. Methods: Herein, we report clinical data on 26 genetically confirmed HD patients from 19 Indian families predominantly from South India. Clinical data and evaluation was performed using standardized formats used by the Huntington Disease Study Group. Results: Adult onset HD was commonest while Juvenile HD (onset < 20 years) was observed in $\sim 15\%$ of patients. Chorea was the commonest presenting symptom (n=23, 88.5%) while remaining presented with psychiatric symptoms (n=3, 11.5%). Impairment of saccades was observed in $\sim 75\%$ of patients. Mean (SD) CAG repeats in the abnormal allele was 48.4(8.7). Total motor score but not the total behavioral score worsens with duration of symptoms. The functional checklist score correlates with total motor score rather than with duration of symptoms. Conclusions: We detail clinical characteristics in genetically confirmed HD patients from a predominantly South Indian cohort. We observed a slightly higher occurrence of Juvenile HD. Functional disabilities in our patients correlate with worsening of motor rather than behavioral symptoms.
|Item Type:||Journal Article|
|Additional Information:||Copyright of this article belongs to Elsevier.|
|Keywords:||Huntington's disease;Triplet repeats;Functional assessments.|
|Department/Centre:||Division of Biological Sciences > Molecular Biophysics Unit|
|Date Deposited:||15 Oct 2008 06:59|
|Last Modified:||19 Sep 2010 04:49|
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