title: Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease.
abstract: We describe three brothers suffering from Krabbe's disease with onset in the fifth decade. The proband showed a complete deficiency of leukocyte enzyme galactocerebrosidase and was found to be heterozygous for two previously described mutations: G > A809 and 502T/del consisting of a 30 kb deletion. In all three brothers the neurological examination showed features of asymmetrical peripheral neuropathy associated with pyramidal signs and the electrophysiological examination showed a generalized slowing of nerve conduction velocities. Two patients died at 59 and 61 years of age due to respiratory failure. Both the proband and his brother underwent a sural nerve biopsy. In the former the most striking finding was the presence of uniformly thin myelin sheaths without evidence of demyelination; a complete absence of fibers was found in the latter. Our findings confirm that peripheral neuropathy may be the presenting feature of late-onset Krabbe's disease. Hypomyelination rather than demyelination may represent the distinguishing pathological finding of this condition.
authors.affiliation: Department of Neurology, Pol. 'A. Gemelli', Università Cattolica del Sacro Cuore, Rome, Italy. msabatelli@rm.unicatt.it
authors.forename: M
authors.initials: M
authors.lastname: Sabatelli
authors.forename: L
authors.initials: L
authors.lastname: Quaranta
authors.forename: F
authors.initials: F
authors.lastname: Madia
authors.forename: G
authors.initials: G
authors.lastname: Lippi
authors.forename: A
authors.initials: A
authors.lastname: Conte
authors.forename: M
authors.initials: M
authors.lastname: Lo Monaco
authors.forename: G
authors.initials: G
authors.lastname: Di Trapani
authors.forename: M A
authors.initials: MA
authors.lastname: Rafi
authors.forename: D A
authors.initials: DA
authors.lastname: Wenger
authors.forename: A M
authors.initials: AM
authors.lastname: Vaccaro
authors.forename: P
authors.initials: P
authors.lastname: Tonali
mesh_terms: D000328:Adult; D017668:Age of Onset; D001706:Biopsy; D005192:Family Health; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000150:complications*; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009186:Myelin Sheath / Q000473:pathology* / Q000648:ultrastructure; D009679:Nuclear Family; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure