Italian Research CMT 1A abstract

[Guest guest]

1: Neuroepidemiology 2002 Sep-Oct;21(5):241-5 Related Articles, Links

Charcot-Marie-Tooth disease in Molise, a central-southern region of

Italy: an epidemiological study.

Morocutti C, Colazza GB, Soldati G, D'Alessio C, Damiano M, Casali C,

Pierelli F.

IRCCS Neuromed, Pozzilli, Italia.

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

PMID: 12207152 [PubMed - indexed for MEDLINE]