Abstract
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. Only nine patients could be classified as classic or atypical PKAN, and intermediate phenotypes are described. Two patients presented with motor tics and obsessive-compulsive behavior suggestive of Tourette syndrome.
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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Brain Diseases, Metabolic, Inborn / enzymology
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Brain Diseases, Metabolic, Inborn / genetics*
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Brain Diseases, Metabolic, Inborn / physiopathology
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Child
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Coenzyme A / biosynthesis
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DNA Mutational Analysis
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Female
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Genetic Testing
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Globus Pallidus / metabolism
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Globus Pallidus / pathology
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Globus Pallidus / physiopathology
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Heredodegenerative Disorders, Nervous System / enzymology
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Heredodegenerative Disorders, Nervous System / genetics*
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Heredodegenerative Disorders, Nervous System / physiopathology
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Humans
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Iron / metabolism
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Iron Metabolism Disorders / enzymology
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Iron Metabolism Disorders / genetics
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Iron Metabolism Disorders / physiopathology
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Male
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Mental Disorders / enzymology
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Mental Disorders / genetics
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Mental Disorders / physiopathology
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Middle Aged
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Mutation / genetics*
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Obsessive-Compulsive Disorder / enzymology
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Obsessive-Compulsive Disorder / genetics
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Obsessive-Compulsive Disorder / physiopathology
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Pantothenate Kinase-Associated Neurodegeneration / enzymology
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Pantothenate Kinase-Associated Neurodegeneration / genetics*
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Pantothenate Kinase-Associated Neurodegeneration / physiopathology
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Phenotype
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Phosphotransferases (Alcohol Group Acceptor) / genetics*
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Pyramidal Tracts / physiopathology
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Tics / enzymology
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Tics / genetics
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Tics / physiopathology
Substances
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Iron
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Phosphotransferases (Alcohol Group Acceptor)
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pantothenate kinase
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Coenzyme A