Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux

Arquivos de Neuro-Psiquiatria

Pedro Barros¹  Hugo Morais¹  Catarina Santos¹  José Roriz¹  Paula Coutinho¹ 

关键词: cough;    hereditary sensory neuropathy;    reflux;    tosse;    neuropatia hereditária sensitiva;    refluxo;   

DOI  :  10.1590/0004-282X20140014

来源: SciELO

【 摘 要 】

In 2002, Spring et al reported a family with an autosomal dominant form of hereditary sensory neuropathy; patients also presented adult onset of gastroesophageal reflux and cough. Since then, no further families have been described.Objective:To study a new Portuguese family with these characteristics. Method:To describe the clinical and neurophysiologic characteristics of one family with features of sensory neuropathy associated with cough and gastroesophageal erflux. Results:Three of five siblings presented a similar history of paroxysmal cough (5th decade). About a decade later they experienced numbness and paraesthesia in the feets and in all cases there was evidence of an axonal sensory neuropathy. A history of gastroesophageal reflux of variable severity and age of onset was also present. Discussion:Molecular genetic studies have demonstrated genetic heterogeneity between the hereditary sensory neuropathy type 1 subtypes. The identification of these families is of major importance because further work is required to identify the underlying genetic defect.

【 授权许可】

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