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

  title={Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease.},
  author={Mario Sabatelli and Laura Quaranta and Francesca Madia and Giuseppe Lippi and Amelia Conte and Mauro Lo Monaco and Girolamo Di Trapani and Mohammad A. Rafi and David A. Wenger and Anna Maria Vaccaro and Pietro Altilio Tonali},
  journal={Neuromuscular disorders : NMD},
  volume={12 4},
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… CONTINUE READING
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