Article
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Orphanet journal of rare diseases - 5 Jul 2023
Dehnavi Ali Zare, Bemanalizadeh Maryam, Kahani Seyyed Mohammad, Ashrafi Mahmoud Reza, Rohani Mohammad, Toosi Mehran Beiraghi, Heidari Morteza, Hosseinpour Sareh, Amini Behnam, Zokaei Shaghayegh, Rezaei Zahra, Aryan Hajar, Amanat Man, Vahidnezhad Hassan, Mohammadi Pouria, Garshasbi Masoud, Tavasoli Ali Reza
Abstract excerpt
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 cohort, we reviewed clinical, imaging, and genetic features of 25 adult and pediatric patients harboring variants in the...
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