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Adult-onset PLA2G6-associated neurodegeneration can present as pure, levodopa-responsive parkinsonism without brain iron accumulation, specifically in patients with homozygous p.D331Y mutations, whereas compound heterozygous mutations produce heterogeneous phenotypes. Novelty: ClaimNovelty.SYNTHESIS. Consensus alignment: ConsensusAlignment.NEUTRAL.

March 17, 2020BMC NeurologyOpen Access

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

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YCYung‐Tsai Chu HLHan‐Yi Lin PCPei‐Lung Chen

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Chu et al. (2020) studied this question.

synapsesocial.com/papers/6aaa5d669b141eaa78831030 https://doi.org/10.1186/s12883-020-01684-6

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March 17, 2020BMC NeurologyOpen Access

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

View Full Paper

Ask AI

Bookmark

Authors

YCYung‐Tsai Chu HLHan‐Yi Lin PCPei‐Lung Chen

Discussion

Member takes

Overview

Key Points

Key points are not available for this paper at this time.

Cite This Study

Chu et al. (2020) studied this question.

synapsesocial.com/papers/6aaa5d669b141eaa78831030 https://doi.org/10.1186/s12883-020-01684-6

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