A clinical study of patients with genetically confirmed Huntington's disease from India

Background: 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 similar to 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 similar to 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. (C) 2001 Elsevier Science B.V. All rights reserved.