Frequency of duplication at 17p11.2 in families of northeast italy with charcot-marie-tooth disease type 1

M. L. Mostacciuolo, F. Schiavon, C. Angelini, B. Miccoli, F. Piccolo, G. A. Danieli

Research output: Contribution to journalArticle

Abstract

Charcot-Marie-Tooth disease type 1 (CMT1) is the most common form of the hereditary motor sensory neuropathies (HMSN) with a prevalence in the Italian population of 9.4/ 100,000 inhabitants. CMT 1 is a genetically heterogeneous disorder. Forty CMT 1 families (35 with recurrence of cases and 5 sporadic cases) living in northeastern Italy were analyzed with the probe pVAW409R3 to reveal the presence of 17p11.2 duplication. The duplication frequency that resulted was about 82% and not significantly different in familial and in sporadic cases (p = 0.801). This kind of molecular analysis can be very useful for the differential diagnosis of CMT 1 and for the early diagnosis in the absence of a clear clinical manifestation.

Original languageEnglish
Pages (from-to)49-53
Number of pages5
JournalNeuroepidemiology
Volume14
Issue number2
DOIs
Publication statusPublished - 1995

Keywords

  • Charcot-Marie-Tooth
  • Chromosome 17
  • Duplication

ASJC Scopus subject areas

  • Epidemiology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Frequency of duplication at 17p11.2 in families of northeast italy with charcot-marie-tooth disease type 1'. Together they form a unique fingerprint.

  • Cite this

    Mostacciuolo, M. L., Schiavon, F., Angelini, C., Miccoli, B., Piccolo, F., & Danieli, G. A. (1995). Frequency of duplication at 17p11.2 in families of northeast italy with charcot-marie-tooth disease type 1. Neuroepidemiology, 14(2), 49-53. https://doi.org/10.1159/000109778