A case of spinocerebellar ataxia type 8 presenting with multiple system atrophy cerebral type
Journal Title: Chinese Journal of Nervous and Mental Diseases - Year 2024, Vol 50, Issue 9
Abstract
We report a case of spinocerebellar ataxia type 8 (SCA8) presenting with multisystem atrophic phenotype. The patient was a 57-year-old male with a 4-year course of illness with dizziness and ataxia as the first symptoms, followed by autonomic dysfunction and rapid eye movement sleep disorder. Neurological examination reveals autonomic dysfunction, nystagmus, dysarthria, ataxia, brain stem and cerebellar symmetrical atrophy and “hot cross bun” sign on MRI. The diagnosis of SCA8 was confirmed by the genetic testing which showed an abnormally high number of CTA/CTG repeats in the two alleles of the ATXN8OS. The patient responded well to symptomatic treatment such as ataxia and autonomic dysfunction. SCA8 is a rare movement disorder with high clinical heterogeneity. This report suggests that SCA8 can also present with autonomic dysfunction, ataxia, pontine “hot cross bun” sign and other characteristics similar to multisystem atrophy phenotype. Thus, it is necessary for clinicians to avoid misdiagnosis or missing the diagnosis of SCA8 presenting with multiple system atrophy cerebral type in clinical work.
Authors and Affiliations
Yajie ZHANG, Keliang CHEN, Jintai. YU
Keywords
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- EP ID EP750542
- DOI 10.3969/j.issn.1002-0152.2024.09.007
- Views 49
- Downloads 0
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