Objective: To describe the clinical and radiological profile of genetically confirmed Huntington’s disease (HD) patients from a single centre movement disorder (MD) clinic in Northern India.

Background: Huntington’s disease (HD) is a rare neurodegenerative disease caused by mutation CAG triplet in Huntingtin (HTT) gene, which results in a pathological expansion of CAG repeats¹. The characteristic clinical triad of HD includes motor impairment, cognitive decline and psychiatric disturbances¹. The literature on Indian HD patients is limited^2-4.

Method: We recruited genetically confirmed cases of HD from the MD clinic of our institute between 2020-2023 January, prospectively. All patients had a comprehensive neurological examination by an MD expert and the demographic, clinical and radiological data were recorded.

Results: During the study period, 33 unrelated patients with HD were recruited; the mean (SD) age of the patients and duration of the illness were 41.58(13.52) and 6.06(3.71) years, respectively. Two patients had juvenile onset of HD (age at onset <20years) and presented with features of parkinsonism. Chorea was the presenting symptom in 27(81.82%) patients; 4(12.22%) patients had behavioral abnormalities as the initial symptom. Cognitive impairment was seen in 22(66.67%) patients and executive functions were most affected. The mean (SD) time to onset of chorea in patients with non-chorea presentations at onset was 2.8(1.31) years. Family history was positive in 29(64.44%) patients and paternal transmission were common. Anticipation was observed in 19 families. The mean (SD) CAG repeats were 46.97(5.11). [Table1]

Conclusion: We report on the clinical characteristics of an HD cohort from Northern India. The findings from our study overlaps with the results of previous studies from Southern and Eastern India.

References: 1. Walker FO. Huntington’s disease. Lancet 2007; 369:218e28.
2. Murgod UA, Saleem Q, Anand A, Brahmachari SK, Jain S, Muthane UB. A clinical study of patients with genetically confirmed Huntington’s disease from India. J Neurol Sci. 2001 Sep 15;190(1-2):73-8.
3. Lenka A, Kamble NL, Sowmya V, Jhunjhunwala K, Yadav R, Netravathi M, et al. Determinants of onset of Huntington’s disease with behavioral symptoms: Insight from 92 patients. J Huntingtons Dis. 2015;4:319–24.
4. Ratna N, Jain S, Varghese M, Pal PK, Kamble N. F16 Clinical profile of juvenile Huntington’s disease: an indian cohort. Journal of Neurology, Neurosurgery & Psychiatry 2018;89: A45.

« Back to 2023 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/characteristics-of-huntington-disease-in-a-north-indian-cohort/