The Clinical, Radiological and Genetic Spectrum of <i>PLA2G6</i>-Associated Neurodegeneration: An Experience From a Tertiary Center.

ABSTRACT:

Background

Despite being the second most common type of neurodegeneration with brain iron accumulation, there is limited literature on PLA2G6-associated neurodegeneration (PLAN) within the Asian ethnicity, particularly in the Indian context.

Methods

We conducted a retrospective observational study on patients with pathogenic/likely pathogenic PLA2G6 variants based on exome sequencing.

Results

We identified 26 patients (22 families, 15 males) of genetically-confirmed PLAN with a median age of 22.5 years and age at onset of 13.0 years, encompassing various subtypes: infantile neuroaxonal dystrophy (5/26;19.2%), atypical neuroaxonal dystrophy (3/26;11.5%), dystonia-parkinsonism (5/26;19.2%), dystonia-parkinsonism-myoclonus (n = 4, 15.38%), early-onset Parki

SUBMITTER: Holla VV 

PROVIDER: S-EPMC11342831 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature