Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review

Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review

Abstract Background Phospholipase A2 group VI (PLA2G6) mutations associated with neurodegeneration (PLAN) manifest as heterogeneous neurodegenerative disorders with variable ages of onset. The genotype-phenotype correlation is not well-established. We aim to describe three adult patients with PLAN a...

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Bibliographic Details
Main Authors: Yung-Tsai Chu, Han-Yi Lin, Pei-Lung Chen, Chin-Hsien Lin
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Neurology
Subjects:
PLA2G6
Dystonia-parkinsonism
Early-onset parkinsonism
Hereditary spastic paraparesis
Ataxia
PLA2G6-associated neurodegeneration
Online Access:http://link.springer.com/article/10.1186/s12883-020-01684-6

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http://link.springer.com/article/10.1186/s12883-020-01684-6

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