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

Background: Clinical data across the globe especially in genetic diseases l ike Huntington's disease (HD) is most helpful when collected using standard ized formats. This helps in proper comparison of clinical and genetic data. Methods: Herein, we report clinical data on 26 genetically confirmed HD pa tients from 19 Indian families predominantly from South India. Clinical dat a and evaluation was performed using standardized formats used by the Hunti ngton Disease Study Group. Results: Adult onset HD was commonest while Juve nile, HD (onset < 20 years) was observed in similar to 15% of patients. Cho rea was the commonest presenting symptom (n = 23, 88.5%) while remaining pr esented with psychiatric symptoms (n = 3, 11.5%). Impairment of saccades wa s observed in similar to 75% of patients. Mean (SD) CAG repeats in the abno rmal allele was 48.4 (8.7). Total motor score but not the total behavioral score worsens with duration of symptoms. The functional checklist score cor relates with total motor score rather than with duration of symptoms. Concl usions: We detail clinical characteristics in genetically confirmed HD pati ents from a predominantly South Indian cohort. We observed a slightly highe r occurrence of Juvenile HD. Functional disabilities in our patients correl ate with worsening of motor rather than behavioral symptoms. (C) 2001 Elsev ier Science B.V. All rights reserved.