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 (5^th 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.

cough; hereditary sensory neuropathy; reflux