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Article

Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.

Cerebellum (London, England) - 4 Jan 2025

Sossamon Jake, O'Connell Patrick, Rastall David P W

Abstract excerpt

A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome...

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PMID: 39753826
DOI: 10.1007/s12311-024-01780-0

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