Article
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
Neurobiology of aging - 1 May 2015
Nishioka Kenya, Oyama Genko, Yoshino Hiroyo, Li Yuanzhe, Matsushima Takashi, Takeuchi Chisen, Mochizuki Yoko, Mori-Yoshimura Madoka, Murata Miho, Yamasita Chikara, Nakamura Norimichi, Konishi Yohei, Ohi Kazuki, Ichikawa Keiji, Terada Tatsuhiro, Obi Tomokazu, Funayama Manabu, Saiki Shinji, Hattori Nobutaka
Abstract excerpt
Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous disorder, characterized by the accumulation of iron in regions such as the basal ganglia. We enrolled 28 patients with childhood intellectual disability and young-onset parkinsonism (≤40 years at onset) and 4 patients with infantile neuroaxonal dystrophy. All had been clinically diagnosed, and the prevalence of genetic mutations...
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