Literature DB >> 3472423

Prevalence of hereditary motor and sensory neuropathy in Cantabria.

O Combarros, J Calleja, J M Polo, J Berciano.   

Abstract

One hundred and forty-four patients with hereditary motor and sensory neuropathy (HMSN) were selected from within a defined area (Cantabria) in Northern Spain, from 1974 to 1984. The series comprises 49 index cases and 95 affected relatives. The prevalence ratio was 28.2 cases per 100,000. The results of the study indicate that the majority of the cases were hereditary as a dominant trait. The prevalence for the Type I HMSN cases did not differ from that of Type II cases. Previous population-surveys of these disorders are compared.

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Year:  1987        PMID： 3472423     DOI： 10.1111/j.1600-0404.1987.tb07882.x

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN： 0001-6314            Impact factor:   3.209


  17 in total

1.  Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Authors:  Rafael Sivera; Teresa Sevilla; Juan Jesús Vílchez; Dolores Martínez-Rubio; María José Chumillas; Juan Francisco Vázquez; Nuria Muelas; Luis Bataller; José María Millán; Fancesc Palau; Carmen Espinós
Journal:  Neurology       Date:  2013-09-27       Impact factor: 9.910

2.  Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

Authors:  O Combarros; A Oterino; J Berciano; A Benito; J L Fernández-Luna
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

3.  The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.

Authors:  J E Hoogendijk; G W Hensels; I Zorn; L Valentijn; E A Janssen; M de Visser; D F Barker; B W Ongerboer de Visser; F Baas; P A Bolhuis
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

Review 4.  New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.

Authors:  José Berciano; Elena Gallardo; Antonio García; Ana L Pelayo-Negro; Jon Infante; Onofre Combarros
Journal:  J Neurol       Date:  2011-05-18       Impact factor: 4.849

5.  Epidemiology of peripheral neuropathy.

Authors:  C N Martyn; R A Hughes
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-04       Impact factor: 10.154

Review 6.  Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Authors:  José Berciano; Antonio García; Elena Gallardo; Kristien Peeters; Ana L Pelayo-Negro; Silvia Álvarez-Paradelo; José Gazulla; Miriam Martínez-Tames; Jon Infante; Albena Jordanova
Journal:  J Neurol       Date:  2017-03-31       Impact factor: 4.849

7.  Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; W Van Hul; P De Jonghe; J J Martin; C Van Broeckhoven
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

8.  Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.

Authors:  Elena Gallardo; Kristl G Claeys; Eva Nelis; Antonio García; Ana Canga; Onofre Combarros; Vincent Timmerman; Peter De Jonghe; José Berciano
Journal:  J Neurol       Date:  2008-06-17       Impact factor: 4.849

9.  NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.

Authors:  José Berciano; Kristien Peeters; Antonio García; Tomás López-Alburquerque; Elena Gallardo; Arantxa Hernández-Fabián; Ana L Pelayo-Negro; Els De Vriendt; Jon Infante; Albena Jordanova
Journal:  J Neurol       Date:  2015-12-08       Impact factor: 4.849

10.  Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.

Authors:  A Oterino; F I Montón; V M Cabrera; F Pinto; A Gonzalez; N R Lavilla
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318
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