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 and combined these data with results from previous studies to elucidate adult-onset PLA2G6 phenotype-genotype correlations.

Case presentations

The first index patient presented with dystonia-parkinsonism starting at age 31 years, accompanied by major depression and cognitive decline. Genetic analysis using targeted next generation sequencing (NGS) panel, Sanger sequencing, and segregation analyses revealed a compound heterozygous mutation, c.991G > T (p.D331Y)/c.1077G > A (M358IfsX), in PLA

SUBMITTER: Chu YT 

PROVIDER: S-EPMC7076921 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature