Article
Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.
Journal of the neurological sciences - 15 Mar 2010
Doi Hiroshi, Koyano Shigeru, Miyatake Satoko, Matsumoto Naomichi, Kameda Tomoaki, Tomita Atsuko, Miyaji Yosuke, Suzuki Yume, Sawaishi Yukio, Kuroiwa Yoshiyuki
Abstract excerpt
Pantothenate kinase-associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz syndrome (HSS), is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in the brain. Mutations in the pantothenate kinase 2 (PANK2) gene are known to be responsible for PKAN. Several studies have revealed correlations between clinical phenotypes and particular PANK2 mutations. The...
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