Literature DB >> 1469243

Nonprogressive type II hereditary sensory autonomic neuropathy: a homogeneous clinicopathologic entity.

G Ferrière1, F Guzzetta, S Kulakowski, P Evrard.   

Abstract

Two different clinical subtypes were previously identified within hereditary sensory autonomic neuropathy (HSAN) type II: a stable congenital form and a progressive one. This paper discusses two clinicopathologic cases of nonprogressive HSAN type II with morphometric correlations. In addition, a retrospective literature search was carried out to locate other cases where an accurate histologic examination, including ultrastructural features, was available in order to relate clinical and pathologic aspects of the disease. The combined data support the individualization of this neuropathic form as a homogeneous disease, as has been suggested during the last century and underline the clinical importance of this concept for the prognosis and investigation of sensory, auditory, autonomic, and motor functions in children with sensory neuropathies.

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Year:  1992        PMID: 1469243     DOI: 10.1177/088307389200700406

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  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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