Amyotrophic lateral sclerosis

  title={Amyotrophic lateral sclerosis},
  author={Eva L. Feldman and Stephen A. Goutman and Susanne Petri and Letizia Mazzini and Masha Georges Savelieff and Pamela J. Shaw and Gen Sobue},
  journal={Nature Reviews Disease Primers},
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized by the degeneration of both upper and lower motor neurons, which leads to muscle weakness and eventual paralysis. Until recently, ALS was classified primarily within the neuromuscular domain, although new imaging and neuropathological data have indicated the involvement of the non-motor neuraxis in disease pathology. In most patients, the mechanisms underlying the development of ALS are poorly understood… 

Clinical Manifestation and Management of Amyotrophic Lateral Sclerosis

  • A. Verma
  • Psychology, Medicine
    Amyotrophic Lateral Sclerosis
  • 2021
This chapter summarizes the clinical features and management of ALS and identifies several clinical subtypes of ALS depending on the degree of upper and lower motor neuron involvement.

Atypical Familial Amyotrophic Lateral Sclerosis Secondary to Superoxide Dismutase 1 Gene Mutation With Coexistent Axonal Polyneuropathy: A Challenging Diagnosis

The case of a 47-year-old man who presented with progressive bilateral lower limb weakness and numbness for the last four years is described and evidence of coexistent axonal sensorimotor polyneuropathy is shown in addition to the typical findings of ALS in needle electromyography.

Psychiatric Symptoms in Amyotrophic Lateral Sclerosis: Beyond a Motor Neuron Disorder

This review aims at identifying the most common psychiatric alterations related to ALS and its prognosis, looking at a common genetic background and shared structural brain pathology.

Destination Amyotrophic Lateral Sclerosis

A philosophical understanding of how early leads are crucial to understanding the endpoints in ALS is provided, because invariably, all early symptomatic leads are underpinned by neurodegeneration at the cellular, molecular and genomic levels.

Cortical Hyperexcitability in the Driver’s Seat in ALS

Evidence is highlighted that strongly indicates a cardinal role for the motor cortex as a main driver and source of the disease, thus arguing for a corticofugal trajectory of the pathology.

Protein kinase inhibitors for amyotrophic lateral sclerosis therapy

The recent literature on protein kinase inhibitors currently in pharmaceutical development for this disease as future therapy for AS together with their involvement in the pathobiology of ALS are examined.

Small junction, big problems: Neuromuscular junction pathology in mouse models of amyotrophic lateral sclerosis (ALS)

Despite variability, early NMJ dysfunction seems to be a common factor in models with SOD1, TARDBP and FUS mutations, while C9ORF72 models do not appear to follow the same pattern of pathology.

Molecular and Cellular Mechanisms Affected in ALS

A cohesive understanding of the molecular functions of ALS-associated genes may provide clues to common molecular mechanisms across both familial (inherited) and sporadic cases and could be key to the development of effective therapeutic approaches.



Functional Biomarkers for Amyotrophic Lateral Sclerosis

An overview of recently developed novel non-invasive electrophysiological techniques that may serve as biomarkers to assess UMN and LMN dysfunction in ALS patients is provided.

Hereditary motor neuropathies and motor neuron diseases: which is which

  • C. HanemannA. Ludolph
  • Medicine, Psychology
    Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases
  • 2002
A comprehensive review of recent work showing that there is a considerable overlap between CMT, MN, SMA, ALS and PLS should help improve understanding of the pathogenesis of motor neuron degeneration and may aid the research for urgently needed new treatment strategies.

Quality improvement in neurology: Amyotrophic lateral sclerosis quality measures

Amyotrophic lateral sclerosis is a lethal, progressive neurodegenerative disease characterized by loss of motor neurons, and cognitive dysfunction is seen in 20% to 50% of patients.

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

Ongoing research on the cellular pathways highlighted in this Review is predicted to open the door to new therapeutic interventions to slow disease progression in ALS.

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

It is observed that many gene variants associated with ALS have effect sizes between those of mutations that greatly increase risk and those of common variants that have a small effect on risk, and this observation is combined with insights from next-generation sequencing to explore the implications for genetic counselling.

State of play in amyotrophic lateral sclerosis genetics

Current literature of the major genes underlying ALS, SOD1, TARDBP, FUS, OPTN, VCP, UBQLN2, C9ORF72 and PFN1 are summarized and how each new genetic discovery is broadening the phenotype associated with the clinical entity the authors know as ALS is outlined.

A mutation in sigma‐1 receptor causes juvenile amyotrophic lateral sclerosis

A consanguineous family segregating juvenile ALS in an autosomal recessive pattern is described and the genetic variant responsible for the disorder is described.