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).

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

“…The longest time interval investigated was 27 years (1960-1987), in the retrospective study of Mostacciuolo et al [11]. A high level of heterogeneity among studies precluded a firm conclusion.…”

“…When analysing the prevalence of CMT (9.37-20.1/100,000), it can be inferred that the lower prevalence rate (9.37/100,000) was reported in an older study [11], in which the only diagnostic methods were nerve biopsies and electromyography; this was also a retrospective study. The second study with the lowest prevalence was also a retrospective study [15], and diagnosis was confirmed only by clinical and CMT diagnosis established according to European CMT Consortium criteria.…”

“…A disproportion in the CMT1/CMT2 relationship was observed in different countries; for example, Iceland, which had the greatest difference, had a CMT1 to CMT2 ratio of 5:1, while Norway had the most homogenous sample with a 1:1 ratio. Among the included studies, only 3 did not report information on CMT1 and CMT2 subtypes; Kandil et al [12] performed a study on various peripheral neuropathies in Egypt, Kurihara et al [13] reported data on CMT prevalence in the general population, and Mostacciuolo et al [11] presented only CMT1 data.…”

Frequency of Duplication at 17p11.2 in Families of Northeast Italy with Charcot-Marie-Tooth Disease Type 1

“…Charcot-Marie-Tooth disease type 1 (CM T 1) is the most common subtype of the heredi tary motor and sensory neuropathies (HM SN) [1], the prevalence in the Italian population being 9.4/100,000 inhabitants [2], The dis ease is clinically characterized by distal mus cle atrophy and weakness, absence o f deep tendon reflexes and pes cavus. Nerve conduc tion velocity is decreased and nerve biopsy shows a hypertrophic neuropathy.…”

Μοριακή γενετική μελέτη της κληρονομικής πολυνευροπάθειας Charcot - Marie - Tooth (CMT)

“…Σε ορισμένους πληθυσμούς ο επιπολασμός της CMT είναι χαμηλότερος από τα πλαίσια των ποσοστών που παρουσιάζονται σε παγκόσμιο επίπεδο, όπως στη Βόρειο Ιταλία 9.4/100,000 (Mostacciuolo et al 1991;Mostacciuolo et al 1995), στη Δανία 6.06/100,000 (Werdelin and Keiding 1990), στη Λιβύη 7.9/100,000 (Radhakrishnan Ποσοστά επιπολασμού της CMT σε διάφορους πληθυσμούς et al 1987), στη Νιγηρία 0.15/100,000 (Aiyesimoju et al 1984), στην Ισλανδία 1,6/100,000 (Combarros et al 1987), στη Βόρεια Καρολίνα 5.4/100,000 (Kurtzke et al 1971) και στη Δυτική Ιαπωνία 10.8/100,000 (Kurihara et al 2002) Διάγραμμα 4.1 Ποσοστιαίες αναφορές διαφόρων πληθυσμών ανά το παγκόσμιο για τον επιπολασμό της CMT ανά 100,000 άτομα.…”