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Cited by 282Amyotrophic Lateral Sclerosis ResearchHereditary Neurological DisordersGenetic Neurodegenerative Diseases

Neuropathology of amyotrophic lateral sclerosis and its variants

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Saberi, Shahram, Stauffer, Jennifer E., Schulte, Derek J., Ravits, John·2015·Neurologic Clinics
DOI 10.1016/j.ncl.2015.07.012PMC PMC4628785
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Abstract

The neuropathologic molecular signature common to almost all sporadic amyotrophic lateral sclerosis (ALS) and most familial ALS is TDP-43 immunoreactive neuronal cytoplasmic inclusions. The neuropathologic and molecular neuropathologic features of ALS variants, primarily lateral sclerosis and progressive muscular atrophy, are less certain but also seem to share the primary features of ALS. Genetic causes, including mutations in SOD1, TDP-43, FUS, and C9orf72, all have distinctive molecular neuropathologic signatures. Neuropathology will continue to play an increasingly key role in solving the puzzle of ALS pathogenesis.

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  • Veterans are at increased risk for ALS development.

    “Veterans are at increased risk for ALS development (51) and their exposure to combat, combat training, and contact sports may predispose them to head injuries to a greater degree than the general population, limiting the generalizability of the study.”

    From Chronic Traumatic Encephalopathy Within an Amyotrophic Lateral Sclerosis Brain Bank Cohort (2018) · cites this paper as [51]

    The Introduction and Familial ALS section discuss ALS history and genetic causes, but neither addresses risk among veterans. Searches for military service, veterans, combat, and head injury found no passage in our copy comparing veterans’ ALS risk with that of the general population. (LLM, conf=0.70)

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Authors
Saberi, S., Stauffer, J. E., Schulte, D. J., & Ravits, J.
Affiliations
University of California San Diego (US)
Corresponding author
Ravits, John
ORCID
Venue
Neurologic Clinics
Publisher
Elsevier BV
Published
2015-11
Volume
33
Issue
4
Pages
855-876
ISSN
0733-8619 (ISSN-L)
DOI
10.1016/j.ncl.2015.07.012
PMC
PMC4628785
OpenAlex
W1910374374
Cited by
282
References
12
Citations by year
2026: 16 · 2025: 19 · 2024: 31 · 2023: 19 · 2022: 38 · 2021: 48 · 2020: 44 · 2019: 27 · 2018: 18 · 2017: 17 · 2016: 5
FWCI
1.73
Type
journal article
Language
en
Open access
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Neurologic Clinics (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institutes of Health (1r21ns051738-01a1)
  • National Institute of Neurological Disorders and Stroke (NS051738, R01NS088578)
Topics
  • Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords
amyotrophic lateral sclerosis, lateral sclerosis, progressive muscular atrophy, TDP-43, neuronal cytoplasmic inclusions, SOD1 mutations, FUS mutations, C9orf72, familial ALS, sporadic ALS, ALS pathogenesis
MeSH terms
C9orf72 Protein, Amyotrophic Lateral Sclerosis, DNA-Binding Proteins, Humans, Proteins, Genetic Variation

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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