What is it about?
Two cases with homozygous p.D331Y mutation in PLA2G6 presenting early-onset parkinsonism were reported previously. However, a fourth phenotype of PLA2G6-associated neurodegeneration was still debating. Herein, we report two patients presenting early-onset parkinsonism with homozygous p.D331Y mutation in PLA2G6, which offers further evidence for the fourth phenotype of PLA2G6-associated neurodegeneration.
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Why is it important?
As a monogenic disorder, clinical and genetic heterogeneity are common features. Three phenotypes have been linked with PLA2G6 gene. Pure early-onset parkinsonism was reported in two Chinese patients with the same mutation-homozygous p.D331Y mutation in PLA2G6. However, the exist of a fourth phenotype was debating. Our report offers further evidence for the fourth phenotype of PLA2G6-associated neurodegeneration.
Perspectives
Our report suggested that PLA2G6 mutation should be considered in pure early-onset parkinsonism patients.
Dr Zhiding Cen
Second Affiliated Hospital, School of Medicine, Zhejiang University
Read the Original
This page is a summary of: Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: Further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration, Parkinsonism & Related Disorders, April 2015, Elsevier,
DOI: 10.1016/j.parkreldis.2015.01.012.
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