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
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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“ALS onset is most often sporadic, with approximately 10% of cases considered familial.There is a known genetic component for approximately 5%-10% of sporadic cases and 60% of familial cases (12,13).”
From Chronic Traumatic Encephalopathy Within an Amyotrophic Lateral Sclerosis Brain Bank Cohort (2018) · cites this paper as [13]
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Metadata
- Authors
- Tiryaki, E., & Horak, H. A.
- Affiliations
- University of Minnesota (US)
- ORCID
- Tiryaki, Ezgi
- Venue
- Continuum
- Published
- 2014-10
- Volume
- 20
- Issue
- 5
- Pages
- 1185-1207
- ISSN
- 1080-2371 (ISSN-L)
- 1538-6899
- 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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