Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease.
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.
Sabatelli
M
M
Department of Neurology, Pol. 'A. Gemelli', Università Cattolica del Sacro Cuore, Rome, Italy. msabatelli@rm.unicatt.it
Quaranta
L
L
Madia
F
F
Lippi
G
G
Conte
A
A
Lo Monaco
M
M
Di Trapani
G
G
Rafi
M A
MA
Wenger
D A
DA
Vaccaro
A M
AM
Tonali
P
P
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