Results 21 to 30 of about 302,721 (262)

Motor neurone disease [PDF]

BMJ, 1996
In patients with motor neurone disease, progressively worsening breathlessness often coincides with deteriorating bulbar function, and this combination may lead to difficulties in swallowing and coughing and a risk of aspiration. Occasionally, chest infections cause life threatening respiratory failure.
openaire   +2 more sources

Selective vulnerability of spinal and cortical motor neuron subpopulations in delta7 SMA mice. [PDF]

PLoS ONE, 2013
Loss of the survival motor neuron gene (SMN1) is responsible for spinal muscular atrophy (SMA), the most common inherited cause of infant mortality. Even though the SMA phenotype is traditionally considered as related to spinal motor neuron loss, it ...
Paolo d'Errico, Marina Boido, Antonio Piras, Valeria Valsecchi, Elena De Amicis, Denise Locatelli, Silvia Capra, Francesco Vagni, Alessandro Vercelli, Giorgio Battaglia   +9 more
doaj   +1 more source

Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy

Disease Models & Mechanisms, 2016
Spinal muscular atrophy (SMA), characterized by specific degeneration of spinal motor neurons, is caused by mutations in the survival of motor neuron 1, telomeric (SMN1) gene and subsequent decreased levels of functional SMN. How the deficiency of SMN, a
Chong-Chong Xu, Kyle R. Denton, Zhi-Bo Wang, Xiaoqing Zhang, Xue-Jun Li   +4 more
doaj   +1 more source

Locomotor deficits in a mouse model of ALS are paralleled by loss of V1-interneuron connections onto fast motor neurons

Nature Communications, 2021
Here the authors show in a model of ALS that motor neurons receive stronger inhibitory synaptic inputs than slow motor neurons, and disease progression is associated with specific loss of inhibitory synapses onto fast motor neurons.
Ilary Allodi, Roser Montañana-Rosell, Raghavendra Selvan, Peter Löw, Ole Kiehn   +4 more
doaj   +1 more source

Differential NPY-Y1 Receptor Density in the Motor Cortex of ALS Patients and Familial Model of ALS

Brain Sciences, 2021
Destabilization of faciliatory and inhibitory circuits is an important feature of corticomotor pathology in amyotrophic lateral sclerosis (ALS). While GABAergic inputs to upper motor neurons are reduced in models of the disease, less understood is the ...
Courtney M. Clark, Rosemary M. Clark, Joshua A. Hoyle, Jyoti A. Chuckowree, Catriona A. McLean, Tracey C. Dickson   +5 more
doaj   +1 more source

DNA damage accumulates and responses are engaged in human ALS brain and spinal motor neurons and DNA repair is activatable in iPSC-derived motor neurons with SOD1 mutations

Acta Neuropathologica Communications, 2020
DNA damage is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS). However, relationships between DNA damage accumulation, DNA damage response (DDR), and upper and lower motor neuron vulnerability in human ALS are unclear; furthermore ...
Byung Woo Kim, Ye Eun Jeong, Margaret Wong, Lee J. Martin   +3 more
doaj   +1 more source

Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development

Frontiers in Cellular Neuroscience, 2016
Spinal muscular atrophy (SMA) is an inherited neuromuscular disease primarily characterized by degeneration of spinal motor neurons, and caused by reduced levels of the SMN protein. Previous studies to understand the proteomic consequences of reduced SMN
Heidi R Fuller, Heidi R Fuller, Berhan eMandefro, Berhan eMandefro, Sally L Shirran, Andrew R Gross, Anjoscha Samija Kaus, Catherine H Botting, Glenn E Morris, Glenn E Morris, Dhruv eSareen, Dhruv eSareen, Dhruv eSareen   +12 more
doaj   +1 more source

Calcitonin gene-related peptide expression levels predict motor neuron vulnerability in the superoxide dismutase 1-G93A mouse model of amyotrophic lateral sclerosis

Neurobiology of Disease, 2012
In amyotrophic lateral sclerosis (ALS) some motor neurons degenerate while others survive. The molecular mechanisms underlying this selective vulnerability and resistance, respectively, are poorly understood.
Cornelia Ringer, Eberhard Weihe, Burkhard Schütz   +2 more
doaj   +1 more source

Aberrant axon initial segment plasticity and intrinsic excitability of ALS hiPSC motor neurons

Cell Reports, 2023
Summary: Dysregulated neuronal excitability is a hallmark of amyotrophic lateral sclerosis (ALS). We sought to investigate how functional changes to the axon initial segment (AIS), the site of action potential generation, could impact neuronal ...
Peter Harley, Caoimhe Kerins, Ariana Gatt, Guilherme Neves, Federica Riccio, Carolina Barcellos Machado, Aimee Cheesbrough, Lea R’Bibo, Juan Burrone, Ivo Lieberam   +9 more
doaj   +1 more source

Modulation of motor behavior by the mesencephalic locomotor region

Cell Reports, 2021
Summary: The mesencephalic locomotor region (MLR) serves as an interface between higher-order motor systems and lower motor neurons. The excitatory module of the MLR is composed of the pedunculopontine nucleus (PPN) and the cuneiform nucleus (CnF), and ...
Daniel Dautan, Adrienn Kovács, Tsogbadrakh Bayasgalan, Miguel A. Diaz-Acevedo, Balazs Pal, Juan Mena-Segovia   +5 more
doaj   +1 more source