title: Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study.
abstract: The authors describe the clinical, biochemical, electrophysiological and ultrastructural study of a case of Refsum's disease whose phenotype suggested other hereditary ataxias. Due to the presence of Babinski sign and optic atrophy and the absence of retinitis pigmentosa, this case can be considered atypical. Electrophysiological and ultrastructural findings confirm the variability of peripheral lesions in this hereditary polyneuropathy.
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Rossi
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: G
authors.initials: G
authors.lastname: Hayek
authors.forename: N
authors.initials: N
authors.lastname: Bardelli
authors.forename: A M
authors.initials: AM
authors.lastname: Bardelli
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000293:Adolescent; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009046:Motor Neurons / Q000502:physiology; D009132:Muscles / Q000294:innervation; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D009431:Neural Conduction; D010375:Pedigree; D010543:Peroneal Nerve / Q000473:pathology; D010641:Phenotype; D010831:Phytanic Acid / Q000378:metabolism; D012035:Refsum Disease / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: D010831:Phytanic Acid