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 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.
Murgod
U A
UA
Department of Neurology, National Institute of Mental Health and Neurosciences, Hosur Road, 560 029, Bangalore, India.
Saleem
Q
Q
Anand
A
A
Brahmachari
S K
SK
Jain
S
S
Muthane
U B
UB
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D001007:Anxiety / Q000209:etiology / Q000503:physiopathology; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002819:Chorea / Q000209:etiology / Q000503:physiopathology; D003072:Cognition Disorders / Q000209:etiology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004401:Dysarthria / Q000209:etiology / Q000503:physiopathology; D004421:Dystonia / Q000209:etiology / Q000503:physiopathology; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006816:Huntington Disease / Q000235:genetics* / Q000503:physiopathology*; D018476:Hypokinesia / Q000209:etiology / Q000503:physiopathology; D007194:India; D007508:Irritable Mood / Q000502:physiology; D008297:Male; D008875:Middle Aged; D009127:Muscle Rigidity / Q000209:etiology / Q000503:physiopathology; D015835:Ocular Motility Disorders / Q000209:etiology / Q000503:physiopathology; D011446:Prospective Studies; D011859:Radiography; D019680:Trinucleotide Repeat Expansion / Q000235:genetics