Results
Title

Charcot-Marie-Tooth Disease in Molise, a Central-Southern Region of Italy: An Epidemiological Study.

Authors

Morocutti, Cristoforo; Colazza, Giovanni Battista; Soldati, Giampiero; D'Alessio, Carmelo; Damiano, Maria; Casali, Carlo; Pierelli, Francesco

Abstract

An epidemiological survey of Charcot-Marie-Tooth disease (CMT) was conducted in Molise, a central-southern region of Italy, from March 1998 to June 2000. Fifty-eight cases of CMT in 13 unrelated families were identified within the selected area. The prevalence of all subtypes of CMT was 17.5/100,000. All families underwent a bio-molecular analysis to disclose the duplication at gene locus 17p11.2 in order to ascertain the diagnosis of CMT type 1A. Our data revealed that 64% of all the observed patients had CMT1A, thus confirming the high prevalence of duplication of the 17p11.2 locus. Copyright © 2002 S. Karger AG, Basel

Publication

Neuroepidemiology, 2002, Vol 21, Issue 5, p241

ISSN

0251-5350

Publication type

Academic Journal

DOI

10.1159/000065642