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Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration.

Parkinsonism & related disorders - 1 Apr 2018

Chen Yi-Jun, Chen Yu-Chao, Dong Hai-Lin, Li Li-Xi, Ni Wang, Li Hong-Fu, Wu Zhi-Ying

Abstract excerpt

INTRODUCTION: Phospholipase A2-associated neurodegeneration (PLAN) is an autosomal recessive movement disorder with abnormal iron deposition in basal ganglia, substantial nigra and adjacent areas, and cerebellar atrophy. It is caused by PLA2G6 mutations and comprises three phenotypes. We aimed to investigate genetic mutations in patients with predominantly extrapyramidal symptoms. METHODS: Eighteen Chinese...

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Identifiers

PMID: 29454663
DOI: 10.1016/j.parkreldis.2018.02.010

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