Petr Dusek, Ralf Mekle, Marta Skowronska, Julio Acosta‐Cabronero, Till Huelnhagen, Simon Daniel Robinson, Florian Schubert, Marcus Deschauer, Antje Els, Bernd Ittermann, Gudrun Schottmann, Vince I. Madai, Friedemann Paul, Thomas Klopstock, Tomasz Kmiec, Thoralf Niendorf, Jens Wuerfel, Susanne A. Schneider

Petr Dusek, Ralf Mekle, Marta Skowronska, Julio Acosta‐Cabronero, Till Huelnhagen, Simon Daniel Robinson, Florian Schubert, Marcus Deschauer, Antje Els, Bernd Ittermann, Gudrun Schottmann, Vince I. Madai, Friedemann Paul, Thomas Klopstock, Tomasz Kmiec, Thoralf Niendorf, Jens Wuerfel, Susanne A. Schneider September 13, 2019

Abstract

Background

Mitochondrial membrane protein‐associated neurodegeneration is an autosomal‐recessive disorder caused by C19orf12 mutations and characterized by iron deposits in the basal ganglia.

Objectives

The aim of this study was to quantify iron concentrations in deep gray matter structures using quantitative susceptibility mapping MRI and to characterize metabolic abnormalities in the pyramidal pathway using 1H MR spectroscopy in clinically manifesting membrane protein‐associated neurodegeneration patients and asymptomatic C19orf12 gene mutation heterozygous carriers.… Read More...

Gyung Ho Chung, Seung Bae Hwang, Hyo Sung Kwak September 13, 2019

Background: Three-dimensional, black-blood, contrast-enhanced, T1-weighted magnetic resonance imaging (3D-BB-ceT1-MRI) could play a role in detection of thrombi and symptomatic intracranial atherosclerotic stenosis. We investigated the role of 3D-BB-ceT1-MRI in patients with acute ischemic stroke in the posterior circulation, and compared our findings with those from susceptibility-weighted imaging (SWI).… Read More...

C. Brogna, L. Cristiano, T. Verdolotti, L. Ficociello, M.C. Pera, L. Antonaci, R. De Sanctis, A. Pichiecchio, C.M. Cinnante, T. Tartaglione, C. Colosimo, M. Pane, E. Mercuri September 13, 2019

Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of alpha motor neurons, clinically associated with muscle weakness, hypotonia and muscle atrophy. The weakness is predominant in the proximal muscles, with lower limbs often more involved than upper limbs with a typical distribution [1].… Read More...

Astrid Pechmann, Matthias Eckenweiler, David Schorling, Dimitra Stavropoulou, Hanns Lochmüller, Janbernd Kirschner September 13, 2019

Non-dystrophic myotonias are a rare group of neuromuscular disorders caused by variants in skeletal muscle sodium (SCN4A) or chloride (CLCN1) channels genes. Variants in SCN4A are associated with different phenotypes such as paramyotonia congenita, hyper- or hypokalemic periodic paralysis, sodium channel myotonia but also with congenital myasthenic syndromes and congenital myopathies [1, 2].… Read More...

Ruth Ann Marrie September 13, 2019

Multiple Sclerosis Journal, Ahead of Print.
Background:Although multiple sclerosis (MS) confers an elevated risk of acute myocardial infarction (AMI), little is known about how it influences management of AMI.Methods:Using population-based administrative (health) data from two Canadian provinces, we conducted a retrospective matched cohort study.… Read More...

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