# Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration

## TL;DR

A patient with a rare genetic disorder showed symptoms similar to multiple system atrophy, highlighting the need for genetic testing in young-onset parkinsonism.

## Contribution

This case report highlights a novel association between elevated serum autotaxin levels and PLA2G6-associated neurodegeneration.

## Key findings

- A patient with a homozygous PLA2G6 variant presented with young-onset parkinsonism and cerebellar atrophy.
- Elevated serum autotaxin levels were observed without liver abnormalities.
- Bilateral brachymetatarsia was associated with the PLA2G6 variant.

## Abstract

PLA2G6-associated neurodegeneration (PLAN) encompasses a spectrum of phenotypes caused by biallelic pathogenic variants in PLA2G6. Initially linked to infantile and atypical neuroaxonal dystrophy, PLAN now includes adult-onset conditions such as dystonia-parkinsonism, ataxia, and spastic paraplegia. We report a female patient presenting young-onset parkinsonism with pyramidal tract signs, cerebellar atrophy, and autonomic dysfunction, mimicking multiple system atrophy (MSA). Neuroimaging showed decreased dopamine uptake and cerebellar hypoperfusion. Genetic analysis identified a homozygous pathogenic variant in PLA2G6 (c.967G>A, p.Val323Met), confirming a diagnosis of PLAN. Interestingly, elevated serum autotaxin levels (4.67 ng/mL) without liver abnormalities. Bilateral brachymetatarsia was also observed, which may indicate an association with the PLA2G6 variant. This case underscores the importance of considering PLAN in cases of young-onset parkinsonism with multisystem involvement. Genetic testing is crucial for accurate diagnosis and management of such cases. Elevated serum autotaxin levels may be associated with decreased phospholipase activity in PLAN and warrants further investigation.