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Synaptic Signaling01:12

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Neurons communicate at synapses, or junctions, to excite or inhibit the activity of other neurons or target cells, such as muscles. Synapses may be chemical or electrical.
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Neurons communicate at synapses, or junctions, to excite or inhibit the activity of other neurons or target cells, such as muscles. Synapses may be chemical or electrical.
Most synapses are chemical, meaning an electrical impulse or action potential spurs the release of chemical messengers called neurotransmitters. The neuron sending the signal is called the presynaptic neuron, and the neuron receiving the signal is the postsynaptic neuron.
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There are numerous types of normal and abnormal respiration. Based on ventilatory movements, breathing patterns are classified as regular, deep, or shallow. Examples include Biot's breathing, Cheyne-Stokes respiration, Kussmaul's breathing, hyperventilation, and hypoventilation. Each pattern is clinically significant and aids in evaluating patients.
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Altered states of consciousness represent significant deviations from one's normal mental state. These deviations can range from subtle changes in awareness to profound transformations in perception, thought processes, and sensory experiences. Altered states of consciousness can be triggered by various factors, including drug use, meditation, hypnosis, illness, or even intense fatigue.
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Alterations in Blood Pressure01:30

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Alterations in blood pressure, such as hypertension (high blood pressure) and hypotension (low blood pressure), significantly affect human health. Understanding these conditions' classifications, causes, and symptoms is essential for effective management and treatment.
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Synaptic integration mainly includes the summation of graded potentials. Graded potentials, regardless of their type, cause subtle alterations in membrane voltage, resulting in either depolarization or hyperpolarization. These incremental changes, when combined or summed, can propel the neuron toward its threshold. Consider, for example, a membrane experiencing a +15 mV shift, causing it to depolarize from -70 mV to -55 mV. In this scenario, graded potentials govern the membrane's ability to...
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ADAR2-Mediated RNA Editing Promotes TDP-43 Nuclear Export and Alters RNA Binding.

bioRxiv : the preprint server for biology·2026
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<i>C9orf72</i> -associated G4C2 hexanucleotide repeat expression in <i>Drosophila</i> mushroom bodies causes age dependent TDP-43 pathology and dementia relevant phenotypes mediated in part by the glypican Dlp/GPC6.

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Related Experiment Video

Updated: Feb 14, 2026

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis ALS
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A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis ALS

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Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD.

Alexander Starr1, Rita Sattler1

  • 1Division of Neurobiology, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, AZ 85013, United States.

Brain Research
|February 18, 2018
PubMed
Summary

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) share a common genetic mutation, C9ORF72. This review explores how this mutation causes synaptic dysfunction and aberrant neuronal excitability, impacting neurotransmission in ALS and FTD.

Keywords:
ALSC9orf72ExcitotoxicityFTDRNA metabolismSynaptic dysfunction

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases with overlapping genetic and pathological features.
  • The C9ORF72 hexanucleotide repeat expansion is the most common genetic cause of familial ALS and FTD.
  • Dysfunction of RNA binding proteins (RBPs) is implicated in the pathogenesis of both ALS and FTD.

Purpose of the Study:

  • To review synaptic dysfunction and aberrant neuronal excitability in C9orf72-associated ALS/FTD.
  • To examine the impact of C9orf72 mutations on neurotransmission in the brain, spinal cord, and neuromuscular junction.
  • To identify shared pathways and potential therapeutic targets for ALS and FTD.

Main Methods:

  • Review of existing literature on C9orf72 ALS/FTD.
  • Analysis of synaptic changes, neuronal excitability, and excitotoxicity in patient and model systems.
  • Comparison of C9orf72-related deficits with other forms of ALS and FTD.

Main Results:

  • C9orf72 mutations lead to synaptic dysfunction and altered neuronal excitability across multiple CNS regions.
  • Proposed mechanisms include RNA foci, loss of C9ORF72 function, and repeat-associated non-ATG translation (RAN) producing dipeptide repeats (DPRs).
  • Shared pathways of synaptic failure are observed across different ALS and FTD subtypes.

Conclusions:

  • Synaptic dysfunction is a key feature of C9orf72-associated ALS/FTD.
  • Targeting synaptic deficits offers a potential therapeutic strategy for these devastating neurodegenerative diseases.
  • Further research into shared pathways may reveal novel treatment avenues.