Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion

G. L. Mancardi, P. Mandich, S. Nassani, A. Schenone, R. James, R. Defferrari, E. Bellone, M. Giunchedi, F. Ajmar, M. Abbruzzese

Research output: Contribution to journalArticlepeer-review

Abstract

We examined for the presence of 17p11.2 deletion, by Southern blotting and fluorescent in situ hybridization, 3 cases with progressive sensory-motor polyneuropathy and diffuse tomaculous changes at sural nerve biopsy. We demonstrated in all the cases the 17p11.2 deletion, previously reported in hereditary neuropathy with pressure palsy, an inherited disorder of the peripheral nervous system with similar pathologic changes but a different clinical phenotype. The molecular study of the 17p11.2 region should be considered as a non invasive method for differential diagnosis in selected cases of progressive polyneuropathy.

Original languageEnglish
Pages (from-to)30-34
Number of pages5
JournalJournal of the Neurological Sciences
Volume131
Issue number1
DOIs
Publication statusPublished - 1995

Keywords

  • 17p11.2 region
  • Hereditary neuropathy with pressure palsy
  • Progressive polyneuropathy
  • Tomaculous neuropathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Ageing
  • Surgery
  • Developmental Neuroscience
  • Neuroscience(all)

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