Article
PLA2G6-associated neurodegeneration in four different populations-case series and literature review.
Parkinsonism & related disorders - 1 Aug 2022
Hanna Al-Shaikh Rana, Milanowski Lukasz M, Holla Vikram V, Kurihara Kanako, Yadav Ravi, Kamble Nitish, Muthusamy Babylakshmi, Bellad Anikha, Koziorowski Dariusz, Szlufik Stanislaw, Hoffman-Zacharska Dorota, Fujioka Shinsuke, Tsuboi Yoshio, Ross Owen A, Wierenga Klaas, Uitti Ryan J, Wszolek Zbigniew, Pal Pramod Kumar
Abstract excerpt
BACKGROUND: PLA2G6-Associated Neurodegeneration, PLAN, is subdivided into: Infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, and adult-onset dystonia parkinsonism [1]. It is elicited by a biallelic pathogenic variant in phospholipase A2 group VI (PLA2G6) gene. In this study we describe new cases and provide a comprehensive review of previously published cases. METHODS: Eleven patients, from four...
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