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VOL. 11, ISSUE 1 (2026)
A case report on spinocerebellar ataxia
Authors
Dr. Parvatesh Sahan Ingale, Dr. Prakash Rao
Abstract
Spinocerebellar Ataxia Type 1 (SCA1) is a
progressive, autosomal dominant neurodegenerative disorder caused by CAG
trinucleotide repeat expansion in the ATXN1 gene. It primarily affects the
cerebellum, leading to gait ataxia, dysarthria, and impaired coordination, with
gradual neurological deterioration. We report the case of a 23-year-old female
born of second-degree consanguineous marriage who presented with
insidious-onset, progressively worsening imbalance while walking for one year,
along with slurring of speech for five months. Family history was suggestive of
autosomal dominant inheritance. Clinical examination revealed hypotonia and
cerebellar signs including dysdiadochokinesia and impaired tandem gait. Routine
laboratory investigations were within normal limits. Magnetic resonance imaging
of the brain demonstrated bilateral cerebellar atrophy. Molecular genetic
testing confirmed CAG repeat expansion in the ATXN1 gene, establishing the
diagnosis of SCA1. This case highlights the importance of early clinical
recognition and confirmatory genetic testing in young patients with progressive
cerebellar ataxia. Early diagnosis facilitates genetic counseling, anticipatory
guidance, and management of secondary complications.
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Pages:46-48
How to cite this article:
Dr. Parvatesh Sahan Ingale, Dr. Prakash Rao "A case report on spinocerebellar ataxia". International Journal of Medicine Research, Vol 11, Issue 1, 2026, Pages 46-48
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