Ontology highlight
ABSTRACT:
SUBMITTER: Jimenez-Jimenez FJ
PROVIDER: S-EPMC3777436 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Tremor and other hyperkinetic movements (New York, N.Y.) 20130725
<h4>Background</h4>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.<h4>Case repor ...[more]