Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease

• Published in: Neuromuscular disorders : NMD Vol. 12; no. 4; pp. 386 - 391
• Main Authors: Sabatelli, M, Quaranta, L, Madia, F, Lippi, G, Conte, A, Lo Monaco, M, Di Trapani, G, Rafi, M.A, Wenger, D.A, Vaccaro, A.M, Tonali, P
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.05.2002
• Subjects: Adult; Age of Onset; Biopsy; Family Health; Humans; Hypomyelination; Late onset Krabbe’s disease; Leukodystrophy, Globoid Cell - complications; Male; Microscopy, Electron; Middle Aged; Myelin Sheath - pathology; Myelin Sheath - ultrastructure; Nerve biopsy; Neuropathy; Nuclear Family; Peripheral Nervous System Diseases - complications; Peripheral Nervous System Diseases - pathology; Sural Nerve - pathology; Sural Nerve - ultrastructure; Neuropathy; Nerve biopsy; Hypomyelination; Late onset Krabbe’s disease
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/S0960-8966(01)00285-1

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.