Diagnostic Challenges Posed by Preceding Peripheral Neuropathy in Very Late-onset Spinocerebellar Ataxia Type 3

Internal Medicine
Atsuhiko SugiyamaSatoshi Kuwabara

Abstract

Peripheral neuropathy is a common extracerebellar manifestation of spinocerebellar ataxia type 3 (SCA3). However, to date, only a few SCA3 case reports have described the development of neuropathy before the emergence of apparent cerebellar signs. We herein report a case of very late-onset SCA3 in which preceding peripheral neuropathy seemingly concealed cerebellar signs, with seven years lapsing from the onset to the diagnosis. Horizontal gaze-evoked nystagmus and brain magnetic resonance imaging (MRI) findings prompted genetic testing, which confirmed the diagnosis of SCA3. A careful follow-up of neurological findings, such as nystagmus, and brain MRI are imperative for such cases.

References

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Methods Mentioned

BETA
biopsy
biopsies
PCR

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