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


METHODS
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.


CONCLUSIONS
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.
Departamento de Neurologia, Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal.
Pedro
P
Barros
Departamento de Neurologia, Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal.
Hugo
H
Morais
Departamento de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, Portugal.
Catarina
C
Santos
Departamento de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, Portugal.
José
J
Roriz
Departamento de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, Portugal.
Paula
P
Coutinho
D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D003371:Cough / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005764:Gastroesophageal Reflux / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation; D009431:Neural Conduction; D010375:Pedigree; D011174:Portugal