Abstract
Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) includes a series of neurodegenerative diseases that result from the mutations in PLA2G6. PLAN has genetic and clinical heterogeneity, with different mutation sites, mutation types and ethnicities and its clinical phenotype is different. The clinical phenotypes and genotypes of PLAN are closely intertwined and vary widely. PLA2G6 encodes a group of VIA calcium-independent phospholipase A2 proteins (iPLA2β), an enzyme involved in lipid metabolism. According to the age of onset and progressive clinical features, PLAN can be classified into the following subtypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD) and parkinsonian syndrome which contains adult onset dystonia parkinsonism (DP) and autosomal recessive early-onset parkinsonism (AREP). In this review, we present an overview of PLA2G6-associated neurodegeneration in the context of current research.
Highlights
PLA2G6-associated neurodegeneration (PLAN) is a complex group of neurodegenerative diseases that result from mutations in a gene known as PLA2G6
The iPLA2β protein encoded by the PLA2G6 gene is an important lipase in the human body which is widely distributed in the tissues of human organs
IPLA2β is highly expressed in the substantia nigra, cortex and the hippocampus [76,77,78]. iPLA2β can hydrolyse the sn-2 acyl chain of phospholipids and the major decomposition products are docosahexaenoic acid (DHA) and lysophospholipids [75]
Summary
PLA2G6-associated neurodegeneration (PLAN) is a complex group of neurodegenerative diseases that result from mutations in a gene known as PLA2G6. Before the onset of the disease, compared to normal infants, some patients may present a delay in psychomotor development, while most cases present no indication [22] This rare neurological disease is mainly characterized by progressive psychomotor deterioration, truncal hypotonia, cerebellar ataxia, extrapyramidal signs, and early visual failure caused by optic atrophy. At the early stages of the disease, the MRI might not detect the iron accumulation, but as the disease progresses, iron accumulation can often be detected by the MRI between the ages of 3 and 25 years old [18] Another typical sign of INAD is a fast progression of cerebellar atrophy, which is shown by the MRI [31]. Neuroimaging showed cerebellar atrophy occurring in the early stages of INAD, but not in other late-onset diseases. There are no effective treatments, only palliative methods that can relieve symptoms and prevent secondary complications
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
