Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.

Ali Zare DehnaviMaryam BemanalizadehSeyyed Mohammad KahaniMahmoud Reza AshrafiMohammad RohaniMehran Beiraghi ToosiMorteza HeidariSareh HosseinpourBehnam AminiShaghayegh ZokaeiZahra RezaeiHajar AryanMan AmanatHassan VahidnezhadPouria MohammadiMasoud GarshasbiAli Reza Tavasoli

Published in: Orphanet journal of rare diseases (2023)

PLAN presents with a wide spectrum of clinical symptoms from infancy to adulthood. PLAN should be considered in adult patients with parkinsonism or cognition decline. Based on the current knowledge, it is not possible to foresee the age of disease onset based on the identified genotype.

Keyphrases

healthcare
single cell
depressive symptoms
white matter
weight gain
drug induced
multiple sclerosis
body mass index