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Porphyria presenting with bilateral radial motor neuropathy: Evidence of a novel gene mutation

2002; Lippincott Williams & Wilkins; Volume: 58; Issue: 7 Linguagem: Inglês

10.1212/wnl.58.7.1118

1526-632X

Peter H. King, Niels Erik Petersen, Ron Rakhra, William E. Schreiber,

Heme Oxygenase-1 and Carbon Monoxide

The authors identified a novel mutation of the porphobilinogen deaminase ( PBG-D ) gene in a patient with acute intermittent porphyria presenting with severe and bilateral axonal radial motor neuropathy. Electrophysiologic studies revealed prominent involvement of distal radial nerves in the setting of mild polyneuropathy. Analysis of the PBG-D gene revealed a single base-pair insertion (887insA) in exon 14.