Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients

Paola Mandich, Rosella James, Stefano Nassani, Raffaella Defferrari, Emilia Bellone, GianLuigi Mancardi, Angelo Schenone, Michele Abbruzzese, Mariano Rocchi, Franco Ajmar, Nicoletta Archidiacono

Research output: Contribution to journalArticle

Abstract

Hereditary neuropathy with a liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent pressure palsies generally precipitated by minor trauma; weakness and paraesthesia usually improve and recover completely in a few months. By Southern blotting and fluorescent in situ hybridization analysis we confirm the presence of a 17p11.2 deletion in familial and in isolated cases of HNPP, suggesting that molecular analysis of the 17p11.2 region could also be a reliable and non-invasive method of diagnosis in sporadic cases, where a correct diagnosis usually requires a nerve biopsy. Although HNPP is a mild disease and not all patients seek medical attention, a presymptomatic diagnosis is useful for assessing the risk during genetic counselling, due to the inheritance of the mutation.

Original languageEnglish
Pages (from-to)295-298
Number of pages4
JournalJournal of Neurology
Volume242
Issue number5
DOIs
Publication statusPublished - May 1995

Keywords

  • 17p11.2 deletion
  • Fluorescent in situ hybridization
  • Hereditary neuropathy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Mandich, P., James, R., Nassani, S., Defferrari, R., Bellone, E., Mancardi, G., Schenone, A., Abbruzzese, M., Rocchi, M., Ajmar, F., & Archidiacono, N. (1995). Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. Journal of Neurology, 242(5), 295-298. https://doi.org/10.1007/BF00878871