Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients
Abstract Background Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-related dystonia-parkinsonism are the main two subtypes. In this coh...
Main Authors: | , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-07-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13023-023-02780-9 |