The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report
Van Khanh Tran,
Chi Dung Vu,
Hai Anh Tran
et al.
Abstract:Rationale:
Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden-Spatz syndrome, is a rare autosomal recessive disease associated with brain iron accumulation and characterized by progressive dystonia, dementia, and dysarthria symptoms. PKAN, caused by a defective pantothenate kinase 2 (PANK2) gene, is the most common neurodegeneration with a brain iron accumulation (NBIA) group. The “eye of the tiger” sign in the magnetic resonance imaging demonstrated a bilateral hyper… Show more
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