AANEM Education News Express

AANEM News Express

Science News: Rise of Biomarkers – Part 3

Submitted and edited by Francisco Gomez, MD, News Science Editorial Board
In “Rise of the Biomarkers – Part 3” (of a four-part series), biomarkers for Charcot-Marie-Tooth disease 1A are discussed. 

Science News: Rise of Biomarkers - Part 2

Over the past several months, an ever increasing number of articles on biomarkers have been published. The AANEM News Science Editorial Board is striving to keep our readers abreast of these recent discoveries.

In “Rise of the Biomarkers – Part 2” (of a four-part series), we cover how we have seen several advances in the diagnosis and evaluation of a number of peripheral nerve disorders, with focus on paranodal analyses and new uses for skin biopsy.

Additional article summaries on biomarkers will be forthcoming in subsequent AANEM publications. 

Science News: Rise of Biomarkers - Part 1

In “Rise of the Biomarkers – Part 1” (of a four-part series), we present new findings in the genetics of Amyotrophic Lateral Sclerosis (ALS). The article summary below outlines how genetic testing can provide new insights into the pathogenesis of Sporadic ALS, which may not be as sporadic as previously considered.

Additional article summaries on biomarkers will be forthcoming in subsequent AANEM publications.

Randomized Trial of Thymectomy in Myasthenia Gravis

This study in the New England Journal of Medicine demonstrates a clear clinical benefit of thymectomy in patients with non-thymomatous myasthenia gravis

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

This study in Neuron identified gain of toxicity as a main pathogenesis of GGGGCC-expanded C9ORF72 for ALS/FTD, and also proved the feasibility and effectiveness of antisense oligonucleotides-mediated therapy. 

Idebenone Reduces Respiratory Complications In Patients with Duchenne Muscular Dystrophy

This study in Neuromuscular Disorders reports the effects of Idebenone in patients with Duchenne Muscular Dystrophy.

Science News: Identifying who will benefit from NIV in ALS

This retrospective study in the Journal of Neurology, Neurosurgery & Psychiatry bolsters the evidence to support non-invasive ventilation (NIV) prescription in patients with ALS.

Modulating Myosin Restores Muscle Function in a Mouse Model of Nemaline Myopathy

This study in the Annals of Neurology demonstrated increased myofiber size and force generation in myocytes of ACTA1 transgenic mice injected with the gene encoding the MyLC1a/emb isoform.

AANEM Launches Its Centennial Podcast

The AANEM has reached a major milestone—the recording of its centennial podcast! Nerve and Muscle Junction podcasts offer discourse on recent publications in NM and EDX medicine literature, featuring interviews with the authors and other experts. 

Guideline Offers Direction in Genetic Testing for Certain Types of Muscular Dystrophy

A new
guideline from the AANEM and American Academy of Neurology  recommends guidance on how doctors should evaluate the full picture in order to determine what genetic tests may best diagnose a person’s subtype of limb-girdle or distal muscular dystrophy.







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