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 biomolecular 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 (C) 2002 S. Karger AG, Basel.
Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: An epidemiological study / C., Morocutti; Giovanni Battista, Colazza; Soldati, Giampiero; C., D'Alessio; M., Damiano; Casali, Carlo; Pierelli, Francesco. - In: NEUROEPIDEMIOLOGY. - ISSN 0251-5350. - STAMPA. - 21:5(2002), pp. 241-245. [10.1159/000065642]
Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: An epidemiological study
SOLDATI, Giampiero;CASALI, Carlo;PIERELLI, Francesco
2002
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 biomolecular 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 (C) 2002 S. Karger AG, Basel.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
