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Revista médica de Chile · Apr 2023
Case Reports[Late-Onset Cerebellar Ataxia with Neuropathy: Uncovering the Role of RFC1 Gene Mutations].
- Marcelo Miranda C, Mario Diaz, Ricardo Hughes G, Mariana Barreto Y, Nicole Nakousi C, and Mario Campero S.
- Fundación Diagnosis, Santiago, Chile.
- Rev Med Chil. 2023 Apr 1; 151 (4): 524529524-529.
AbstractWe report two unrelated patients with late-onset cerebellar ataxia associated with neuropathy and a long-standing dry cough. One patient had two siblings affected with sensory neuropathy and cough. Both probands had extensive investigations including genetics testing negative for most common ataxias as well as testing for paraneoplasic and other immunologic causes. Both patients showed an abnormal intronic expansion in the pentanucleotide AAGGG of the gene RFC1. This etiology is being reported as frequent cause of adult-onset ataxia; the presence of cough may lead to the correct diagnosis.
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