clinical and neurophysiologic characterization of an european family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux
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ID: 244633
2014
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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 (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.
| Reference Key |
barros2014arquivosclinical
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| Authors | ;Pedro Barros;Hugo Morais;Catarina Santos;José Roriz;Paula Coutinho |
| Journal | communications in computer and information science |
| Year | 2014 |
| DOI |
10.1590/0004-282X20140014
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| URL | |
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