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

Lou, Emil; Züchner, Stephan; Vance, Jeffery; Morgenlander, Joel
June 2010
Mayo Clinic Proceedings;Jun2010, Vol. 85 Issue 6, p594
Academic Journal
Case Study
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.


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