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

UNLABELLED: 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 feet 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.

Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux / Caracterização clínica e neurofisiológica de uma família europeia com neuropatia sensitiva hereditária, tosse paroxística e refluxo gastroesofágico

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. .

Em 2002, Spring et al descreveram uma família com uma combinação de polineuropatia sensitiva hereditária, doença do refluxo gastroesofágico e tosse paroxística. Desde então não foram descritos outros casos. Objectivo: Estudar uma nova família portuguesa com essas características. Método: Caracterização clínica e neurofisiológica de uma família com a referida combinação de patologias. Resultados: Três, de cinco irmãos, apresentam uma história semelhante de tosse paroxística com início na 5a década. Cerca de uma década mais tarde iniciam quadro de parestesias em ambos os pés, com evidência de neuropatia sensitiva axonal. Todos os casos apresentam também uma história de doença do refluxo gastroesofágico de gravidade variável. Discussão: Nos últimos anos, os estudos de genética molecular permitiram evidenciar a heterogeneidade genética dos vários subtipos de polineuropatia sensitiva hereditária tipo 1. A identificação das famílias afectadas reveste-se de grande importância, nomeadamente na tentativa de caracterização da alteração genética deste subtipo. .