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Cited by 143Amyotrophic Lateral Sclerosis ResearchHereditary Neurological DisordersNeurogenetic and Muscular Disorders Research

The DOI matches its Crossref record; 44 of the 44 references it cites were found in a registry or an index.

ALS and Other Motor Neuron Diseases

Tiryaki, Ezgi, Horak, Holli A.·2014·Continuum
DOI 10.1212/01.con.0000455886.14298.a4
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Abstract

Purpose of review This review describes the most common motor neuron disease, ALS. It discusses the diagnosis and evaluation of ALS and the current understanding of its pathophysiology, including new genetic underpinnings of the disease. This article also covers other motor neuron diseases, reviews how to distinguish them from ALS, and discusses their pathophysiology. Recent findings In this article, the spectrum of cognitive involvement in ALS, new concepts about protein synthesis pathology in the etiology of ALS, and new genetic associations will be covered. This concept has changed over the past 3 to 4 years with the discovery of new genes and genetic processes that may trigger the disease. As of 2014, two-thirds of familial ALS and 10% of sporadic ALS can be explained by genetics. TAR DNA binding protein 43 kDa (TDP-43), for instance, has been shown to cause frontotemporal dementia as well as some cases of familial ALS, and is associated with frontotemporal dysfunction in ALS. Summary The anterior horn cells control all voluntary movement: motor activity, respiratory, speech, and swallowing functions are dependent upon signals from the anterior horn cells. Diseases that damage the anterior horn cells, therefore, have a profound impact. Symptoms of anterior horn cell loss (weakness, falling, choking) lead patients to seek medical attention. Neurologists are the most likely practitioners to recognize and diagnose damage or loss of anterior horn cells. ALS, the prototypical…

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Crossref · 10.1212/01.con.0000455886.14298.a4

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Research works printed but not linked: 2

  1. GeneReviews. www.ncbi.nlm.nih.gov/books/NBK1450/. Accessed June 3 2014.
  2. Jones HR Burns TM Aminoff MJ Pomeroy SL eds. The Netter collection of medical illustrations nervous system: spinal cord and peripheral nervous system. 2nd ed. Philadelphia PA: Elsevier 2013.

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Metadata

Authors
Tiryaki, E., & Horak, H. A.
Affiliations
University of Minnesota (US)
ORCID
Tiryaki, Ezgi
Venue
Continuum
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2014-10
Volume
20
Issue
5
Pages
1185-1207
ISSN
  • 1080-2371 (ISSN-L)
  • 1538-6899
DOI
10.1212/01.con.0000455886.14298.a4
OpenAlex
W2103490084
Cited by
143
References
44
Citations by year
2026: 8 · 2025: 13 · 2024: 10 · 2023: 24 · 2022: 33 · 2021: 14 · 2020: 13 · 2019: 8 · 2018: 9 · 2017: 2 · 2016: 3 · 2015: 3
FWCI
1.74
Type
journal article
Language
en
Open access
closed
Locations
  • CONTINUUM Lifelong Learning in Neurology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
  • Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
Keywords
amyotrophic lateral sclerosis, motor neuron disease, TDP-43, frontotemporal dementia, familial ALS, sporadic ALS, anterior horn cells, differential diagnosis, pathophysiology, end-of-life care
MeSH terms
Amyotrophic Lateral Sclerosis, Humans, Motor Neuron Disease

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