AANEM Education News Express

AANEM News Express

Science News: Childhood Amyotrophic Lateral Sclerosis Caused by Excess Sphingolipid Synthesis

ALS is a devastating disease with poorly understood underlying pathophysiology. This article describes a rare cause of the early onset of motor neuron disease in children due to mutation in SPLTC1, a subunit of the SPT (serine palmitoyltransferase).

Science News: Epidemiology and Natural History of Inclusion Body Myositis A 40-Year Population-Based Study

This study determines the prevalence and natural history of sporadic inclusion body myositis (sIBM) and tests the hypothesis that patients with sIBM have higher cancer or mortality rates than the general population. The study identified 20 patients (10 clinicopathologically defined, 9 clinically defined, and 1 probable) according to the ENMC criteria and 1 patient with all features of clinicopathologically defined sIBM except for symptom onset at <45 years of age. The prevalence of sIBM in 2010 was 18.20 per 100,000 people ≥50 years old.

Science News: Acute Flaccid Myelitis: Long-Term Outcomes Recorded in the CAPTURE Study Compared With Paediatric Transverse Myelitis

This is a prospective, multicenter, non-randomized, observational cohort study of children with myelitis seen at academic centers in North America. The study lasted 5 years and the length of follow-up was 1 year. Pediatric patients diagnosed with myelitis were eligible for enrollment in the study within 6 months of onset of symptoms. Patients were classified as transverse myelitis (TM) or the acute flaccid myelitis (AFM) variant based on clinical and radiographic findings.

Science News: Cardiovascular health and chronic axonal polyneuropathy: A population-based study

The authors in this study investigated participants of the Rotterdam Study between June 2013 and January 2017, and screened them for polyneuropathy categorized as having no, possible, probable or definite polyneuropathy.

Science News: Focal Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Onset, Course, and Distinct Features

Focal CIDP, described as involvement of brachial or lumbosacral plexus, or one or more peripheral nerves in one upper or lower limb, can pose diagnostic challenge.

Science News: Tau Protein as a Diagnostic and Prognostic Biomarker in Amyotrophic Lateral Sclerosis

This study highlights role of Tau protein as a potential diagnostic and prognostic biomarker in ALS patients.

Science News: The Value of Sensory Nerve Conduction Studies in the Diagnosis of Guillain-Barré Syndrome

This article reviews the utility of sensory testing for GBS. Specifically, sural sensory sparing, i.e. abnormal median and ulnar SNAPs (sensory nerve action potential) amplitudes and normal sural SNAP, is 47-83% sensitive and up to 96% specific for GBS. Likewise, one study indicated an abnormal (dorsal ulnar/palmar ulnar) SNAP ratio of less than 0.78 is 87% sensitive and 100% specific for GBS.

Science News: Rate of Change in Acetylcholine Receptor Antibody Levels Predicts Myasthenia Gravis Outcome

Up to 80% of myasthenia gravis (MG) patients are seropositive for anti-acetylcholine receptor antibodies (AChR-Ab) and these antibodies are routinely checked as diagnostic markers in clinical practice. However, their use in prognosis is thought to be limited.

Science News: Guillain-Barré Syndrome in Association With COVID-19 Infection: A Tale of Two Studies

As the COVID-19 pandemic has spread, there have been increasing reports of neurological manifestations. In one study 36.4% patients reported dysgeusia or anosmia, headaches, dizziness, stroke and encephalopathy. In another, up to 84% of patients with severe COVID-19 had neurological complaints. There have been reports of concomitant COVID-19 and GBS which led the authors to the above meta-analysis and multi-center case-control study. 

Science News: Myotonic Muscular Dystrophy Type 2 in CT, USA: A Single-Center Experience With 50 Patients

Myotonic muscular dystrophy type 2 (DM2) is a an autosomal dominant genetic disease stemming from expansion of the first intron of the Cellular Nucleic acid Binding Protein (CNBP) gene which encodes for a zinc finger protein. This disease tends to course with wasting muscle weakness, characteristic myotonia, and cataracts.