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

17 Citations (Scopus)

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

Fingerprint

Charcot-Marie-Tooth Disease
Italy
Hereditary Sensory and Motor Neuropathy
Early Diagnosis
Differential Diagnosis
Recurrence
Population
4-des-dimethylaminotetracycline

Keywords

  • Charcot-Marie-Tooth
  • Chromosome 17
  • Duplication

ASJC Scopus subject areas

  • Epidemiology
  • Clinical Neurology

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

Frequency of duplication at 17p11.2 in families of northeast italy with charcot-marie-tooth disease type 1. / Mostacciuolo, M. L.; Schiavon, F.; Angelini, C.; Miccoli, B.; Piccolo, F.; Danieli, G. A.

In: Neuroepidemiology, Vol. 14, No. 2, 1995, p. 49-53.

Research output: Contribution to journalArticle

Mostacciuolo, ML, Schiavon, F, Angelini, C, Miccoli, B, Piccolo, F & Danieli, GA 1995, 'Frequency of duplication at 17p11.2 in families of northeast italy with charcot-marie-tooth disease type 1', Neuroepidemiology, vol. 14, no. 2, pp. 49-53. https://doi.org/10.1159/000109778
Mostacciuolo, M. L. ; Schiavon, F. ; Angelini, C. ; Miccoli, B. ; Piccolo, F. ; Danieli, G. A. / Frequency of duplication at 17p11.2 in families of northeast italy with charcot-marie-tooth disease type 1. In: Neuroepidemiology. 1995 ; Vol. 14, No. 2. pp. 49-53.
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