Cited by 79Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatmentsGenetic Neurodegenerative Diseases

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Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD

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Starr, Alexander, Sattler, Rita·2018·Brain Research

DOI 10.1016/j.brainres.2018.02.011PMC PMC5997509

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Abstract

Amyotrophic lateral sclerosis (ALS) is characterized by a progressive degeneration of upper and lower motor neurons, resulting in fatal paralysis due to denervation of the muscle. Due to genetic, pathological and symptomatic overlap, ALS is now considered a spectrum disease together with frontotemporal dementia (FTD), the second most common cause of dementia in individuals under the age of 65. Interestingly, in both diseases, there is a large prevalence of RNA binding proteins (RBPs) that are mutated and considered disease-causing, or whose dysfunction contribute to disease pathogenesis. The most common shared genetic mutation in ALS/FTD is a hexanucleuotide repeat expansion within intron 1 of C9ORF72 (C9). Three potentially overlapping, putative toxic mechanisms have been proposed: loss of function due to haploinsufficient expression of the C9ORF72 mRNA, gain of function of the repeat RNA aggregates, or RNA foci, and repeat-associated non-ATG-initiated translation (RAN) of the repeat RNA into toxic dipeptide repeats (DPRs). Regardless of the causative mechanism, disease symptoms are ultimately caused by a failure of neurotransmission in three regions: the brain, the spinal cord, and the neuromuscular junction. Here, we review C9 ALS/FTD-associated synaptic dysfunction and aberrant neuronal excitability in these three key regions, focusing on changes in morphology and synapse formation, excitability, and excitotoxicity in patients, animal models, and in vitro models. We compare these deficits to those seen in other forms of ALS and FTD in search of shared pathways, and discuss the potential targeting of synaptic dysfunctions for therapeutic intervention in ALS and FTD patients.

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Additional file 1 of Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia
Sogorb‐Esteve, A., Nilsson, J., Swift, I. J., Heller, C., Bocchetta, M., Russell, L. L., Peakman, G., Convery, R. S., Swieten, J. C. V., Seelaar, H., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20762867
Additional file 3 of Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia
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Additional file 2 of Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia
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Authors: Starr, A., & Sattler, R.
Affiliations: Barrow Neurological Institute (US)
Corresponding author: Sattler, Rita
ORCID: Starr, Alexander
Sattler, Rita
Venue: Brain Research
Publisher: Elsevier BV
Published: 2018-08
Volume: 1693
Issue: Pt A
Pages: 98-108
ISSN: 0006-8993 (ISSN-L)
DOI: 10.1016/j.brainres.2018.02.011
PMC: PMC5997509
OpenAlex: W2790884408
Cited by: 78
References: 211
Citations by year: 2026: 2 · 2025: 6 · 2024: 9 · 2023: 7 · 2022: 21 · 2021: 15 · 2020: 10 · 2019: 5 · 2018: 3
FWCI: 1.30
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Brain Research (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health
Fogarty International Center
National Institute of Neurological Disorders and Stroke (R01NS085207)
Topics: Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords: C9orf72, amyotrophic lateral sclerosis, frontotemporal dementia, synaptic dysfunction, neuronal excitability, excitotoxicity, RNA-binding proteins, hexanucleotide repeat expansion, dipeptide repeat proteins, repeat-associated non-ATG translation, RNA foci, neuromuscular junction, synaptogenesis, motor neurons, therapeutic target
MeSH terms: C9orf72 Protein, Amyotrophic Lateral Sclerosis, Animals, Humans, Motor Neurons, Mutation, RNA, Synapses, RNA-Binding Proteins, Frontotemporal Dementia

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Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD

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