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HOPS‐Associated Neurological Disorders: Lysosomal Dysfunction as an Emerging Concept Underlying Dystonia

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Dystonia is a clinical symptom thought to emerge from brain network dysfunction involving abnormal cortical excitability, plasticity, and sensory dysfunction within the somatosensory cortex, basal ganglia, and cerebellum. Although these… Click to show full abstract

Dystonia is a clinical symptom thought to emerge from brain network dysfunction involving abnormal cortical excitability, plasticity, and sensory dysfunction within the somatosensory cortex, basal ganglia, and cerebellum. Although these abnor-malities have repeatedly been identi fi ed in different entities, presenting with isolated and combined dystonia, common pathophysiological concepts underlying dystonia, such as endoplasmic reticulum function, gene transcript modulation during neurodevelopment and nigrostriatal dopaminergic signaling are only beginning to emerge. 1 As in other fi elds of neurology, the identi fi cation of causative genetic mutations has tremendously contributed to elucidating the underlying pathophysiology.

Keywords: neurological disorders; underlying dystonia; associated neurological; disorders lysosomal; dysfunction; hops associated

Journal Title: Movement Disorders Clinical Practice
Year Published: 2022

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