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Related Concept Videos

Direct Motor Pathways01:11

Direct Motor Pathways

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The direct motor pathways, also known as the pyramidal tracts, are a group of neural pathways that originate in the brain and descend through the spinal cord. They control the voluntary movement of the body. There are two major direct motor pathways: the corticospinal and the corticobulbar tracts.
The corticospinal tract is responsible for the voluntary movement of the limbs and trunk. It originates in the cerebral cortex of the brain and descends through the cerebrum's internal capsule and...
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Hierarchy of Motor Control01:18

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The hierarchy of motor control refers to the different levels of organization and processing involved in controlling movement in the body. These levels range from higher cortical areas involved in planning and decision-making to lower spinal cord reflexes that respond automatically to external stimuli.
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Motor Units01:13

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The motor unit is a fundamental component of the neuromuscular system and plays a crucial role in coordinating muscle contractions. It consists of a somatic motor neuron, which connects and controls multiple skeletal muscle fibers, forming a single functional segment. The axon of the motor neuron branches out and establishes synaptic connections known as neuromuscular junctions with individual muscle fibers within the motor unit.
Motor units come in different sizes, with smaller units...
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Motor Units00:46

Motor Units

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A motor unit consists of two main components: a single efferent motor neuron (i.e., a neuron that carries impulses away from the central nervous system) and all of the muscle fibers it innervates. The motor neuron may innervate multiple muscle fibers, which are single cells, but only one motor neuron innervates a single muscle fiber.
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Motor Unit Stimulation01:20

Motor Unit Stimulation

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When the neuron of a motor unit fires an action potential, it triggers a series of events, leading to a twitch contraction in the muscle fibers. The process of excitation-contraction coupling is crucial in relaying the action potential to the muscle fibers.
The latent period of contraction marks the onset of excitation-contraction coupling, when the action potential propagates across the sarcolemma, preparing the muscle fibers for contraction. As the fibers enter the contraction phase, the...
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Glucose Transporters01:27

Glucose Transporters

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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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Related Experiment Video

Updated: Jan 14, 2026

Measuring Glucose Uptake in Drosophila Models of TDP-43 Proteinopathy
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GLUT1DS: focus on motor profile.

Costanza Varesio1, Valeria Vacchini2, Massimiliano Celario1

  • 1Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|October 23, 2025
PubMed
Summary
This summary is machine-generated.

Patients with Glucose Transporter Type 1 Syndrome (GLUT1DS) show impaired motor skills across all MABC-2 test areas. Severe GLUT1DS cases correlate with greater motor deficits, highlighting the need for early intervention.

Keywords:
GLUT1DSMABC-2Motor skill

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Glucose Transporter Type 1 Syndrome (GLUT1DS) is a rare neurometabolic disorder linked to SLC2A1 gene mutations.
  • It impairs glucose transport to the brain, causing epilepsy, intellectual disability, and movement issues.

Purpose of the Study:

  • To assess the motor profile of GLUT1DS patients using the Movement Assessment Battery for Children version 2 (MABC-2).

Main Methods:

  • The MABC-2 was administered to a cohort of 31 GLUT1DS patients.
  • Analysis focused on motor performance across all MABC-2 subscales and summary scores.

Main Results:

  • GLUT1DS patients exhibited impaired motor performance across all MABC-2 subscales and summary scores.
  • A correlation was observed between disease severity and the degree of motor impairment.

Conclusions:

  • Impaired motor function is a significant characteristic of GLUT1DS, impacting long-term health and well-being.
  • Early identification of motor deficits is crucial for timely interventions to support patient development.