Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease.
Neuromuscul Disord
; 12(4): 386-91, 2002 May.
Article
em En
| MEDLINE
| ID: mdl-12062257
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.
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Base de dados:
MEDLINE
Assunto principal:
Doenças do Sistema Nervoso Periférico
/
Leucodistrofia de Células Globoides
/
Bainha de Mielina
Limite:
Adult
/
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article