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Peripheral Neuropathy with Hypomyelinating Features in Adult‐onset Krabbe's Disease
Author(s) -
Sabatelli M,
Quaranta L,
Madia F,
Lippi G,
Conte A,
Lo Monaco M,
Di Trapani G,
Rafi MA,
Wenger DA,
Vaccaro AM,
Tonali P
Publication year - 2003
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1046/j.1529-8027.2003.03016_3.x
Subject(s) - proband , peripheral neuropathy , medicine , krabbe disease , pathological , sural nerve , myelin , nerve conduction velocity , pathology , peripheral , disease , leukodystrophy , endocrinology , central nervous system , biology , mutation , gene , diabetes mellitus , biochemistry
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.