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

• Main Authors: Pedro Barros, Hugo Morais, Catarina Santos, José Roriz, Paula Coutinho
• Format: Article
• Language: English
• Published: Academia Brasileira de Neurologia (ABNEURO) 2014-04-01
• Series: Arquivos de Neuro-Psiquiatria
• Subjects: tosse; neuropatia hereditária sensitiva; refluxo
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000400269&lng=en&tlng=en

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.