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

Abstract：

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 approximately 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 approximately 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.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Murgod UA,Saleem Q,Anand A,Brahmachari SK,Jain S,Muthane UB

doi

10.1016/s0022-510x(01)00593-7

subject

Has Abstract

pub_date

2001-09-15 00:00:00

pages

73-8

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022510X01005937

journal_volume

190

pub_type

杂志文章

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