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

Mostacciuolo, M. L.; Schiavon, F.; Angelini, Corrado; Miccoli, Beatrice; Piccolo, F.; Danieli, G

doi:10.1159/000109778

Cited by 17 publications

(13 citation statements)

References 18 publications

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“…This is even more so for studies based on genetic analysis. Mostacciuolo [3] reported a 9.4/100,000 prevalence rate of CMT1 cases in Northern Italy with an 82% rate for CMT1A. Holmberg et al [4] found a prevalence rate of 16.2/100,000 for CMT1A.…”

Section: Discussionmentioning

confidence: 99%

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Charcot-Marie-Tooth Disease in Molise, a Central-Southern Region of Italy: An Epidemiological Study

et al. 2002

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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.

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Section: Discussionmentioning

confidence: 99%

“…The threshold conduction velocity distinguishing the two forms is considered as being 38 m/s for the median nerve, but overlapping values have been reported [2]. Type 1 is the most prevalent form, accounting for about 80% of the cases of CMT [3][4][5].…”

Section: Introductionmentioning

confidence: 99%

Charcot-Marie-Tooth Disease in Molise, a Central-Southern Region of Italy: An Epidemiological Study

et al. 2002

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“…Regarding epidemiological studies, most have investigated the prevalence of general CMT; most of the remaining studies have investigated the prevalence of CMT1, the most common subtype of the disease [18]. Prevalence studies evaluating only CMT2 are rare.…”

Section: Discussionmentioning

confidence: 99%

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

Barreto¹,

Oliveira²,

Nunes³

et al. 2016

Neuroepidemiology

217

143

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Background: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: CMT type 1 (CMT1; demyelinating form) and CMT type 2 (CMT2; axonal form). The objectives of this study were to systematically review and assess the quality of studies reporting the incidence and/or prevalence of CMT worldwide. Summary: A total of 802 studies were initially identified, with only 12 meeting the inclusion criteria. CMT prevalence was reported in 10 studies and ranged from 9.7/100,000 in Serbia to 82.3/100,000 in Norway. The frequency of the main subtypes varied from 37.6 to 84% for CMT1 and from 12 to 35.9% for CMT2; the country with the lowest prevalence of CMT1 was Norway, and the country with the highest prevalence of CMT1 was Iceland; on the other hand, CMT2 was least prevalent in the United Kingdom and most prevalent in Norway. Key Messages: This review reveals the gaps that still exist in the epidemiological knowledge of CMT around the world. Published studies are of varying quality and utilise different methodologies, thus precluding a robust conclusion. Additional research focusing on epidemiological features of CMT in different nations and different ethnic groups is needed.

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“…ters have been published elsewhere [9,39,[46][47][48][49][50][51][52][53][54]. Only 6 out of 579 (1.0%) patients were found to have a smaller duplication.…”

Section: Mutation Analysismentioning

confidence: 99%

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

Nelis

Broeckhoven

Mariman³

et al. 1996

Eur J Hum Genet

387

223

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A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was estab lished to estimate the duplication and deletion frequency, respectively, on chromosome 17pl 1.2 and to make an inventory of mutations in the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32) located on chromosomes 17pl 1.2, Iq21-q23 andXql3.1, respectively. In 70.7% of 819 unrelated CMT1 patients, the 17p11.2 duplica tion was present. In 84.0% of 156 unrelated HNPP patients, the 17p 11.2 dele tion was present. In the nonduplicated CMT1 patients, several different muta tions were identified in the myelin genes PMP22, MPZ and Cx32.

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

Cited by 17 publications

References 18 publications

Charcot-Marie-Tooth Disease in Molise, a Central-Southern Region of Italy: An Epidemiological Study

Charcot-Marie-Tooth Disease in Molise, a Central-Southern Region of Italy: An Epidemiological Study

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

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

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