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Erratum to: Trends in Research Literature Describing Dysphagia in Motor Neuron Diseases (MND): A Scoping Review

Source: Dysphagia - Category: Speech-Language Pathology Source Type: research

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Authors: Honore T, Le Breton F, Turmel N, Bignani B, Chesnel C, Charlanes A, Amarenco G Abstract PURPOSE: To evaluate safety and efficacy of botulinum toxin A injections in the urethral striated sphincter in patients with difficulties to perform self-intermittent catherization. METHODS: In this prospective study, 12 patients suffering from upper motor neuron diseases (8 multiple sclerosis, 2 myelitis, 1 brain injury, 1 multi system atrophy) and with difficulties to perform self-intermittent catherization, defined by a ICDQ score>1 (Intermittent Catheterization Difficulty Questionnair...
Source: Progres en Urologie - Category: Urology & Nephrology Tags: Prog Urol Source Type: research
Authors: Papadimas GK, Paraskevas GP, Zambelis T, Karagiaouris C, Bourbouli M, Bougea A, Walter MC, Schumacher NU, Krause S, Kapaki E Abstract VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness since his mid-40s and a severe deterioration during the last year. He also manifested dementia with prominent neuropsychiatric symptoms, including aggression, apathy, palilalia and obsessions. Brain MRI revealed frontal atrophy, while musc...
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
In this study, we further characterized this interaction and discovered a concealed UBX domain in the third lumenal loop of ATP7A, between its fifth and sixth transmembrane domains. We show that the T994I substitution results in conformational exposure of the UBX domain, which then binds the N-terminal domain of p97/VCP. We also show that this abnormal interaction occurs at or near the cell plasma membrane. The UBX domain has a conserved hydrophobic FP (Phe-Pro) motif, and substitution with di-alanine abrogated the interaction and restored the proper intracellular localization of ATP7A in the trans-Golgi network. Using pro...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Molecular Bases of Disease Source Type: research
In conclusion, we here demonstrated for the first time that human TARDBP mutated MNs can be successfully obtained exploiting the reprogramming and differentiation ability of peripheral blood cells, an easily accessible source from any patient.
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Publication date: 15 June 2018 Source:Life Sciences, Volume 203 Author(s): Qing-Qing Tao, Qiao Wei, Zhi-Ying Wu Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disorder, characterized by the selective degeneration of upper and lower motor neurons. The common clinical symptoms of ALS are caused by the degeneration and dysfunction of motor neurons. With the progression of our understanding of the pathogenesis of the disease, an increasing number of extramotor phenotypes have been linked to ALS. It has long been believed that sensory neurons localized in the dorsal root ganglia are not involved in ALS. In...
Source: Life Sciences - Category: Biology Source Type: research
CONCLUSIONS SETS is indeed an effective strategy to enhance axonal regeneration, which is mainly contributed by the donor neuronal pool. Moreover, the presence of a distal SETS coaptation appears to negatively influence neuronal regeneration across the NIC segment. The clinical significance is that SETS should only employ synergistic donors, as the use of antagonistic donors can downgrade recovery. PMID: 29775143 [PubMed - as supplied by publisher]
Source: Journal of Neurosurgery - Category: Neurosurgery Authors: Tags: J Neurosurg Source Type: research
(University of Liverpool) An international study led by biochemists at the University of Liverpool has shown that the drug-molecule ebselen can correct many of the toxic characteristics of a protein that causes some cases of hereditary motor neurone disease (MND).
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Publication date: Available online 17 May 2018 Source:Stem Cell Reports Author(s): Evangelos Kiskinis, Joel M. Kralj, Peng Zou, Eli N. Weinstein, Hongkang Zhang, Konstantinos Tsioras, Ole Wiskow, J. Alberto Ortega, Kevin Eggan, Adam E. Cohen Human induced pluripotent stem cell (iPSC)-derived neurons are an attractive substrate for modeling disease, yet the heterogeneity of these cultures presents a challenge for functional characterization by manual patch-clamp electrophysiology. Here, we describe an optimized all-optical electrophysiology, “Optopatch,” pipeline for high-throughput functional characterization ...
Source: Stem Cell Reports - Category: Stem Cells Source Type: research
Abstract The causes of degenerative disease of the upper and lower motor neurons are incompletely understood. In this review the current concepts in the clinical and genetic differential diagnostics of motor neuron diseases are presented. Hereditary spastic paraplegia, primary lateral sclerosis, spinal muscular atrophy and amyotrophic lateral sclerosis are explained, structured according to the affection of the upper and/or lower motor neuron. The substantial variability in the presentation and course of motor neuron diseases as well as the lack of specific laboratory tests hinder an early diagnosis. The precise d...
Source: Der Nervenarzt - Category: Neurology Authors: Tags: Nervenarzt Source Type: research
RG-7916 is a first-in-class drug candidate for the treatment of spinal muscular atrophy (SMA) that functions by modulating pre-mRNA splicing of the SMN2 gene, resulting in a 2.5-fold increase in survival of motor neuron (SMN) protein level, a key protein lacking in SMA patients. RG-7916 is currently in three interventional...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: PNAS Plus Source Type: research
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