2008年6月19日 · PLA2G6 -associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis.

PLA2G6-associated neurodegeneration (PLAN) is a neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, …

2022年6月14日 · PLA2G6-associated neurodegeneration (PLAN) is an extremely rare, inherited degenerative disorder of the nervous system characterized by abnormalities of nerve endings within the brain, spinal cord and peripheral nerves. PLAN is inherited as an autosomal recessive genetic condition caused by changes (variants) in the PLA2G6 gene.

2024年12月25日 · PLA2G6 (Phospholipase A2 Group VI) is a Protein Coding gene. Diseases associated with PLA2G6 include Neurodegeneration With Brain Iron Accumulation 2A and Parkinson Disease 14, Autosomal Recessive. Among its related pathways are Acyl chain remodelling of PE and Glycerophospholipid biosynthesis.

PLA2G6-associated neurodegeneration (PLAN) is a complex group of neurodegenerative diseases that result from mutations in a gene known as PLA2G6. According to the age of onset and clinical features, PLAN can be mainly classified into four subtypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD), adult-onset ...

The PLA2G6 gene provides instructions for making a type of enzyme called an A2 phospholipase. Learn about this gene and related health conditions.

2023年8月1日 · PLA2G6 is involved in neurodegenerative diseases pathology with abnormal lipid metabolism and protein-protein interactions. Genetic test may reveal more PLA2G6 variants, and the classification would be upgraded following ACMG guidelines.

PLAN is caused by variants in the phospholipase A2 group VI gene (PLA2G6), which encodes an enzyme involved in membrane homeostasis, signal transduction, mitochondrial dysfunction, and α-synuclein aggregation.

Introduction: PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features. Methods: Observational clinical study in a cohort of infantile and childhood onset PLAN patients and genetic analysis of …

2023年7月5日 · 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 …