title: Genetic epidemiology of hereditary motor sensory neuropathies (type I).
abstract: Patients affected with hereditary motor sensory neuropathy (HMNS) type I were traced through hospital records. Each case was re-examined, a family history was drawn, and EMG examination was performed in those members of the family who could have inherited the trait. In the prevalence year 1987, in a population of 1,067,130 inhabitants of 2 contiguous provinces of northeast Italy, 100 living cases were recorded in 30 families, giving a minimal prevalence rate estimate of 9.37/100,000. HMSN I is inherited as an autosomal dominant trait, when clinical evaluation includes EMG. No difference may be established clinically between the 2 subtypes (Ia, linked to chromosome 1 and Ib, linked to chromosome 17). Sporadic cases are very rare and the mutation rate, including both the subtypes, is estimated between 3 and 6 X 10(-6).
authors.affiliation: Department of Biology, University of Padua, Italy.
authors.forename: M L
authors.initials: ML
authors.lastname: Mostacciuolo
authors.forename: G
authors.initials: G
authors.lastname: Micaglio
authors.forename: P
authors.initials: P
authors.lastname: Fardin
authors.forename: G A
authors.initials: GA
authors.lastname: Danieli
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D015995:Prevalence; D012189:Retrospective Studies; D012727:Sex Characteristics