ABSTRACT

There are several hundred single‐gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non‐neurological and neurological manifestations, commonly with onset during childhood. Movement disorders are among the most common neurological problems in inborn errors of metabolism, but, in many cases, remain poorly defined.… Read More...

ABSTRACT

Background: MicroRNAs are small noncoding RNAs involved in the post‐transcriptional regulation of protein synthesis. Extracellular microRNAs are accessible in a stable form in biofluids.

Objectives: The aim was to identify individual microRNAs and/or subsets of microRNAs in CSF with biomarker potential and thus identify specific putative pathophysiological pathways.… Read More...

Sleep disorders are common in children with epilepsy, with some reports suggesting that the prevalence of sleep disturbances is as high as 45% within this group.(1,2) However, limited data exists regarding the screening, evaluation, and management of potential sleep disorders in children with epilepsy.… Read More...

Background: Asians with atrial fibrillation carry a higher risk of ischemic stroke than non-Asians even under treatment of nonvitamin K antagonist oral anticoagulants. The purpose of the study was to observe the feasibility of intravenous thrombolytic therapy after administering a reversal agent, idarucizumab, in dabigatran-treated patients with acute ischemic stroke in Taiwan.… Read More...

Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency, is a progressive, rare autosomal recessive disorder caused by mutations in the gene that encodes acid α-glucosidase (GAA). Deficiency of lysosomal GAA, an enzyme required for lysosomal glycogen degradation, results in an accumulation of lysosomal and eventually cytoplasmic glycogen [1-3].… Read More...

Neuromuscular conditions are the primary cause for admission in less than 0.5% of cases referred to the intensive care unit (ICU) [1], consisting of either severe, newly acquired neuromuscular diseases, or complications of a pre-existing disorder requiring organ support. New onset acquired neuromuscular conditions are associated with long stays in the ICU, but their ultimate prognosis is good compared with other neurological disorders.… Read More...

Royal et al. demonstrate that migraine-associated frameshift mutations of TRESK, a two-pore-domain K+ channel, lead to the production of a second protein fragment, which carries the pathophysiological function by inhibiting TREK1 and 2, due to a mechanism called frameshift mutation-induced alternative translation initiation (fsATI).… Read More...

The peripheral nervous system may be involved at any stage in the course of lymphoproliferative diseases. The different underlying mechanisms include neurotoxicity secondary to chemotherapy, direct nerve infiltration (neurolymphomatosis), infections, immune‐mediated, paraneoplastic or metabolic processes and nutritional deficiencies. Accordingly, the clinical features are heterogeneous and depend on the localization of the damage (ganglia, roots, plexi, peripheral nerves) and on the involved structures (myelin, axon, cell body).… Read More...

Abstract

Objective: White matter hyperintensities (WMH) are linked to vascular risk factors and increase the risk of cognitive decline, dementia and stroke. We here aimed to determine if obesity contributes to regional WMH using a whole‐brain approach in a well‐characterized population‐based cohort.… Read More...

Kathrin Doppler, Kathrin Brockmann, Annahita Sedghi, Isabel Wurster, Jens Volkmann, Wolfgang H. Oertel, Claudia Sommer

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