Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia

Félix Javier Jiménez-Jiménez, José AG Agúndez, Carmen Martínez, Francisco Navacerrada, José Francisco Plaza-Nieto, Belén Pilo-De-La-Fuente, Hortensia Alonso-Navarro & Elena García-Martín
Background: Hereditary coproporphyria (HCPO) is a low‐penetrance, autosomal dominant, acute hepatic porphyria characterized by the overproduction and excretion of coproporphyrin. The most common neurological manifestations of this entity include peripheral, predominantly motor dysfunction, and central nervous system dysfunction. Ataxia associated with HCPO has not been reported previously. The aim of this article is to report a patient with HCPO presenting with acute ataxia. Case Report: We describe a 44‐year‐old patient presenting clinically with acute ataxia...
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