Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next-generation sequencing: Clinical and molecular spectrum delineation.

Background And Aims: Axonal forms of Charcot-Marie-Tooth disease (CMT) are classified as CMT2, distal hereditary motor neuropathy (dHMN) or hereditary sensory neuropathy (HSN) and can be caused by mutations in over 100 genes. We presently aimed to investigate for the first time the genetic landscape of axonal CMT in the Greek population.

Methods: Sixty index patients with CMT2, dHMN or HSN were screened by a combination of Sanger sequencing (GJB1) and next-generation sequencing custom-made gene panel covering 24 commonly mutated genes in axonal CMT.

The Rise Slope of the Compound Sensory Nerve Action Potential in Normal and Pathological Human Nerves.

In spite of the diagnostic importance of the early phase of the sensory nerve action potential (SNAP), reliable electrodiagnostic metrics for this part of the recorded waveform are lacking. The average rise slope of the SNAP appreciates the steepness of the initial negative deflection of the waveform, which might be a useful metric for the first part of the potential. Sural nerve sensory neurography was performed in patients with various axonal neuropathies, and median nerve sensory studies were carried out in patients with carpal tunnel syndrome.

Bilateral palsy of the hypoglossal nerve following general anesthesia for emergency surgery. A case report.

Introduction And Importance: Hypoglossal nerve palsy is a rare condition usually associated with tumors, trauma, stroke or multiple sclerosis. It can be associated with other cranial nerve palsies while injury to this nerve typically affects a patient's articulation by causing lingual motility disturbance and swallowing difficulty. Bilateral isolated hypoglossal nerve palsy is an even more infrequent condition, which can occasionally be due to airway manipulation.