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

Abstract

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.

GGC Repeat Expansion in the NOTCH2NLC Gene Is Associated With a Phenotype of Predominant Motor–Sensory and Autonomic Neuropathy

“…Based on the findings that intranuclear inclusions were found in multiple organs including the lungs ( Sone et al, 2005 ), it could be assumed that intranuclear inclusions could possibly exist in the trachea and bronchia, which might be related to the dysfunction of the airway. (2) Chronic dry cough had been reported in hereditary sensory neuropathy ( Spring et al, 2005 ; Barros et al, 2014 ) and familial amyloid polyneuropathy ( Yuan et al, 2019 ). Considering the severe autonomic symptoms and denervated Schwann cell units on EM in these patients, the cough might have partly arisen from the damages to C or Aδ unmyelinated fibers in peripheral nerves that constructed the autonomic nerve networks of the airways for cough reflex hypersensitivity ( Canning, 2006 ; Gibson and Vertigan, 2015 ).…”

Neuropathy and cough may not be a fortuitous association

“…In this number of Arquivos de Neuropsiquiatria, Barros et al 4 described a Portuguese family with HSN1 and cough/GOR, clearly contributing to the clinical definition of this condition. Their patients had a severe sensory ataxia and a sensorineural loss was present on audiometry.…”