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Choline acetyltransferase (ChAT; EC ) catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. Mutations in genes encoding ChAT affecting motility exist in Caenorhabditis elegans and Drosophila, but no CHAT mutations have been observed in humans to date. Here we report that mutations in CHAT cause a(More)
A cohort of 106 patients with electrodiagnostically confirmed long thoracic neuropathy (50 patients) or spinal accessory neuropathy (56 patients) seen at the Mayo Clinic over a 22-year period were retrospectively studied to better understand the natural history of these disorders and to determine the role of electrodiagnostic testing in predicting(More)
Different theories have evolved to explain the pathogenesis and the cell of origin of intraneural ganglion cysts. Reportedly only three cases of intraneural ganglion of the tibial nerve have been located within the popliteal fossa, and all of these were thought to arise within the nerve. The authors report a case of a recurrent tibial intraneural ganglion(More)
OBJECTIVE Endoanal ultrasound identifies anal sphincter anatomy, and evacuation proctography visualizes pelvic floor motion during simulated defecation. These complementary techniques can evaluate obstructed defecation and fecal incontinence. Our aim was to develop a single, nonionizing, minimally invasive modality to image global pelvic floor anatomy and(More)
BACKGROUND AND AIMS Anal sphincter weakness and rectal sensory disturbances contribute to faecal incontinence (FI). Our aims were to investigate the relationship between symptoms, risk factors, and disordered anorectal and pelvic floor functions in FI. METHODS In 52 women with "idiopathic" FI and 21 age matched asymptomatic women, we assessed symptoms by(More)
Vitamin B12 deficiency is common, with most patients lacking classic features of advanced severe deficiency. Early diagnosis and treatment prevent severe anemia and irreversible damage to the nervous system. We describe a 34-year-old man with pernicious anemia who presented with clinical and radiologic features of early myelopathy and borderline low serum(More)
Cranial nerves can be damaged during a variety of surgical procedures. The function of the cranial nerves can be monitored during surgery with electromyography (EMG), compound nerve and muscle action potentials (MAP), and auditory evoked potentials (AEP). We report important technical considerations that allow reliable recordings of these modalities during(More)
BACKGROUND Immunoglobulin (Ig) administration induces remyelination in the Theiler's virus model of MS. METHODS A randomized, double-blinded, placebo-controlled trial of IV immunoglobulin (IVIg) was performed in patients with MS who had persistent muscle weakness that had been stable for between 4 and 18 months to determine whether this would improve(More)
We studied 46 consecutive patients with multifocal motor neuropathy with conduction block (MMN-CB). Typically, asymmetric weakness and atrophy of the hands or arms developed insidiously, but spontaneous improvement (without treatment) or death from this disease did not occur and 94% remained employed. For 18 patients examined on multiple occasions using the(More)
The authors found that fluoxetine significantly shortens at 5 microM/L and nearly normalizes at 10 microM/L the prolonged opening bursts of slow-channel congenital myasthenic syndrome (SCCMS) acetylcholine receptors (AChR) expressed in fibroblasts. Prompted by this observation, they treated two SCCMS patients allergic to quinidine with up to 80 to 120 mg of(More)