Literature DB >> 14513175

[Hereditary sensory and autonomic neuropathy type 2: two cases report].

Wilson Luiz Sanvito1, Berenice Oliveira V Cataldo, Agnaldo Rodrigues Costa.   

Abstract

Two cases of hereditary sensory and autonomic neuropathy type 2 are reported. This type of neuropathy is included in a group that consists of five different entities. The systematization of that neuropathies depends on multiple criteria such as age of beginning, genetic aspects, clinical manifestations, eletroneuromyographic and pathologic features. In this report we describe the cases in a family, two brothers, 27 and 35 years old that were observed in our department with pain insensibility and consequent sensitive-trophic disturbs and deformity of members. The diagnoses was defined as hereditary sensory and autonomic neuropathy type 2 and an inherited pattern recessive autossomic transmission was considered. The age of beginning, the hereditary aspects, the clinical manifestations and the eletroneuromyographic features are analysed. The differential diagnoses with other sensory hereditary and acquired neuropathies is emphasized.

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Year:  2003        PMID: 14513175     DOI: 10.1590/s0004-282x2003000400024

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN: 0004-282X            Impact factor:   1.420


  1 in total

1.  Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

Authors:  Ronald G Lafreniere; Marcia L E MacDonald; Marie-Pierre Dube; Julie MacFarlane; Mary O'Driscoll; Bernard Brais; Sebastien Meilleur; Ryan R Brinkman; Owen Dadivas; Terry Pape; Christele Platon; Chris Radomski; Jenni Risler; Jay Thompson; Ana-Maria Guerra-Escobio; Gudarz Davar; Xandra O Breakefield; Simon N Pimstone; Roger Green; William Pryse-Phillips; Y Paul Goldberg; H Banfield Younghusband; Michael R Hayden; Robin Sherrington; Guy A Rouleau; Mark E Samuels
Journal:  Am J Hum Genet       Date:  2004-04-01       Impact factor: 11.025

  1 in total

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