TITLE

A Potential Novel Variant of Hereditary Sensory Neuropathy in a 61-Year-Old Man With Cough-Induced Syncope and Vertebral Artery Dissection

AUTHOR(S)
Lou, Emil; Züchner, Stephan; Vance, Jeffery; Morgenlander, Joel
PUB. DATE
June 2010
SOURCE
Mayo Clinic Proceedings;Jun2010, Vol. 85 Issue 6, p594
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
The article presents a case study of hereditary sensory neuropathy in a 61-year-old man who was diagnosed with syncope induced by cough and vertebral artery dissection. The patient was considered for a mutation in the serine palmitoyltransferase gene (SPTLC1), which is a key enzyme in the production of sphingomyelin. After examinations, the cough was attributed to denervation hypersensitivity of the upper airways and esophagus, and extensive genetic evaluation yielded no mutation of SPTLC1.
ACCESSION #
51302208

 

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