Atypical hereditary neuropathy with liability to pressure palsies (HNPP): The value of direct DNA diagnosis

Maria Sessa, Raffaello Nemni, Angelo Quattrini, Ubaldo Del Carro, Lawrence Wrabetz, Nicola Canal

Research output: Contribution to journalArticlepeer-review

Abstract

We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed active axonal regeneration without typical tomacula. Molecular analysis confirmed the presence of a deletion of chromosome 17p11.2 in both patients. Our observation confirms the heterogeneity of hereditary liability to pressure palsies and the relevance of DNA testing for the diagnosis of this hereditary neuropathy.

Original languageEnglish
Pages (from-to)889-892
Number of pages4
JournalJournal of Medical Genetics
Volume34
Issue number11
Publication statusPublished - 1997

Keywords

  • CMT1A
  • Hereditary neuropathy with liability to pressure palsies (HNPP)
  • HMSN1A
  • PMP-22

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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