Dramatic Improvement in Juvenile Parkinsonism after Levodopa Treatment in a Patient Negative for the PANK2 Mutation

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A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism

BACKGROUND Pantothenate-kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder that is characterized by progressive extrapyramidal signs, visual loss, and cognitive impairment. PKAN is caused by mutations in the pantothenate kinase gene (PANK2), which is located on chromosome 20p13 and encodes pantothenate kinase, the key regulatory enzyme in coenzyme-A ...

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ژورنال

عنوان ژورنال: Pediatrics & Neonatology

سال: 2016

ISSN: 1875-9572

DOI: 10.1016/j.pedneo.2015.06.002