GLUT1DS:

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.

概括

患有葡萄糖载体1型综合征 (GLUT1DS) 的患者在所有MABC-2测试区域都表现出运动能力受损. 严重的GLUT1DS病例与较大的运动缺陷相关,突显了早期干预的必要性.

相关概念视频

Direct Motor Pathways01:11

Direct Motor Pathways

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

Hierarchy of Motor Control

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

Motor Units

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

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

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

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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.
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