Motor neuron disease

Definition

Motor neuron disease usually refers to amyotrophic lateral sclerosis, but it can also refer to other kind of neurodegenerative disease that affect the motor neurons, such as progressive primary lateral sclerosis, progressive muscular atrophy and progressive bulpar palsy.

Latest Research and Reviews

  • Research |

    A fluorescence-based assay is used to screen cyclic peptides for their activity in preventing protein misfolding, an event that can generate pathogenic aggregates that lead to diseases such as Alzheimer's disease or amyotrophic lateral sclerosis.

    • Ilias Matis
    • , Dafni Chrysanthi Delivoria
    • , Barbara Mavroidi
    • , Nikoletta Papaevgeniou
    • , Stefania Panoutsou
    • , Stamatia Bellou
    • , Konstantinos D. Papavasileiou
    • , Zacharoula I. Linardaki
    • , Alexandra V. Stavropoulou
    • , Kostas Vekrellis
    • , Nikos Boukos
    • , Fragiskos N. Kolisis
    • , Efstathios S. Gonos
    • , Marigoula Margarity
    • , Manthos G. Papadopoulos
    • , Spiros Efthimiopoulos
    • , Maria Pelecanou
    • , Niki Chondrogianni
    •  & Georgios Skretas
  • Research | | open

    Amyotrophic lateral sclerosis (ALS) leads to selective loss of motor neurons. Using motor neurons derived from induced pluripotent stem cells from patients with ALS and FUS mutations, the authors demonstrate that axonal transport deficits that are observed in these cells can be rescued by HDAC6 inhibition.

    • Wenting Guo
    • , Maximilian Naujock
    • , Laura Fumagalli
    • , Tijs Vandoorne
    • , Pieter Baatsen
    • , Ruben Boon
    • , Laura Ordovás
    • , Abdulsamie Patel
    • , Marc Welters
    • , Thomas Vanwelden
    • , Natasja Geens
    • , Tine Tricot
    • , Veronick Benoy
    • , Jolien Steyaert
    • , Cynthia Lefebvre-Omar
    • , Werend Boesmans
    • , Matthew Jarpe
    • , Jared Sterneckert
    • , Florian Wegner
    • , Susanne Petri
    • , Delphine Bohl
    • , Pieter Vanden Berghe
    • , Wim Robberecht
    • , Philip Van Damme
    • , Catherine Verfaillie
    •  & Ludo Van Den Bosch
  • Reviews |

    Amyotrophic lateral sclerosis (ALS) is characterized by the degeneration of both upper and lower motor neurons, which leads to progressive muscle weakness and paralysis. This Primer by Hardiman and colleagues provides a detailed overview of the epidemiology, pathophysiology and diagnosis of ALS, and discusses the management of both the motor and non-motor symptoms of this condition.

    • Orla Hardiman
    • , Ammar Al-Chalabi
    • , Adriano Chio
    • , Emma M. Corr
    • , Giancarlo Logroscino
    • , Wim Robberecht
    • , Pamela J. Shaw
    • , Zachary Simmons
    •  & Leonard H. van den Berg
  • Reviews |

    Genome engineering tools, including targeted gene editing and gene regulation, are becoming available to correct the mutations that cause neuromuscular disorders such as muscular dystrophy, spinal muscular atrophy and myotonic dystrophy. This Review summarizes the genome engineering strategies that are under preclinical evaluation for the treatment of degenerative neuromuscular disorders, focusing on the tools that show the greatest potential for clinical translation.

    • Christopher E. Nelson
    • , Jacqueline N. Robinson-Hamm
    •  & Charles A. Gersbach
  • Research | | open

    Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease. Here, Wray and colleagues identify association of the GPX3-TNIP1 locus with ALS using cross-ethnic meta-analyses.

    • Beben Benyamin
    • , Ji He
    • , Qiongyi Zhao
    • , Jacob Gratten
    • , Fleur Garton
    • , Paul J. Leo
    • , Zhijun Liu
    • , Marie Mangelsdorf
    • , Ammar Al-Chalabi
    • , Lisa Anderson
    • , Timothy J. Butler
    • , Lu Chen
    • , Xiang-Ding Chen
    • , Katie Cremin
    • , Hong-Weng Deng
    • , Matthew Devine
    • , Janette Edson
    • , Jennifer A. Fifita
    • , Sarah Furlong
    • , Ying-Ying Han
    • , Jessica Harris
    • , Anjali K. Henders
    • , Rosalind L. Jeffree
    • , Zi-Bing Jin
    • , Zhongshan Li
    • , Ting Li
    • , Mengmeng Li
    • , Yong Lin
    • , Xiaolu Liu
    • , Mhairi Marshall
    • , Emily P. McCann
    • , Bryan J. Mowry
    • , Shyuan T. Ngo
    • , Roger Pamphlett
    • , Shu Ran
    • , David C. Reutens
    • , Dominic B. Rowe
    • , Perminder Sachdev
    • , Sonia Shah
    • , Sharon Song
    • , Li-Jun Tan
    • , Lu Tang
    • , Leonard H. Berg
    • , Wouter Rheenen
    • , Jan H. Veldink
    • , Robyn H. Wallace
    • , Lawrie Wheeler
    • , Kelly L. Williams
    • , Jinyu Wu
    • , Xin Wu
    • , Jian Yang
    • , Weihua Yue
    • , Zong-Hong Zhang
    • , Dai Zhang
    • , Peter G. Noakes
    • , Ian P. Blair
    • , Robert D. Henderson
    • , Pamela A. McCombe
    • , Peter M. Visscher
    • , Huji Xu
    • , Perry F. Bartlett
    • , Matthew A. Brown
    • , Naomi R. Wray
    •  & Dongsheng Fan