Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study.
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.
IRCCS Neuromed, Pozzilli, Italia.
Cristoforo
C
Morocutti
Giovanni Battista
GB
Colazza
Giampiero
G
Soldati
Carmelo
C
D'Alessio
Maria
M
Damiano
Carlo
C
Casali
Francesco
F
Pierelli
D000293:Adolescent; D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000453:epidemiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D006306:Health Surveys; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged