Francesca Magrinelli, Sahil Mehta, Giulia Di Lazzaro, Anna Latorre, Mark J Edwards, Bettina Balint, Purba Basu, Christopher Kobylecki, Sergiu Groppa, Anaita Hegde, Eoin Mulroy, Carlos Estevez-Fraga, Anshita Arora, Hrishikesh Kumar, Susanne A Schneider, Patrick A Lewis, Zane Jaunmuktane, Tamas Revesz, Sonia Gandhi, Nicholas W Wood, John A Hardy, Michele Tinazzi, Vivek Lal, Henry Houlden, Kailash P Bhatia
BACKGROUND: Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration. OBJECTIVES: The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported. METHODS: We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review. RESULTS: PLA2G6-related parkinsonism shows a fairly distinct phenotype based on 86 cases from 68 pedigrees...
January 2022: Movement Disorders: Official Journal of the Movement Disorder Society