Abstract
Pantothenate kinase-associated neurodegeneration (PKAN) causes a progressive generalized dystonia which remains pharmacologically intractable. We performed bilateral internal globus pallidus stimulation in six patients with genetically confirmed PKAN who obtained a major and long-lasting improvement of their painful spasms, dystonia, and functional autonomy. This study shows the benefits of pallidal DBS for the dystonia of PKAN patients.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Age of Onset
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Basal Ganglia / pathology
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Deep Brain Stimulation*
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Dystonia / etiology
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Dystonia / therapy
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Female
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Follow-Up Studies
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Globus Pallidus / physiology*
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Humans
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Magnetic Resonance Imaging
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Male
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Neurodegenerative Diseases / genetics*
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Neurodegenerative Diseases / therapy*
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Phosphotransferases (Alcohol Group Acceptor) / genetics*
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Spasm / etiology
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Spasm / therapy
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Stereotaxic Techniques
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Treatment Outcome
Substances
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Phosphotransferases (Alcohol Group Acceptor)
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pantothenate kinase