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- W2385781800 abstract "Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative condition. Major clinical features include progressive dystonia, pigmentary retinopathy, spasticity, and cognitive decline. The typical MRI sign of the disease, known as “eye-of-the-tiger”, is what makes differential diagnosis possible. We here describe a 16-year-old male patient with PKAN presenting with severe and sustained jaw-opening dystonia which may be due to heterogeneous etiologies showing poor response to treatment. Herein, long-term follow-up and genetic results of a PKAN case who experienced severe jaw-opening dystonia are presented and discussed." @default.
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- W2385781800 date "2016-09-01" @default.
- W2385781800 modified "2023-10-02" @default.
- W2385781800 title "A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia" @default.
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- W2385781800 doi "https://doi.org/10.1016/j.braindev.2016.02.010" @default.
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