Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24253
Abstract: Infantile neuroaxonal dystrophy is an autosomal recessive neurological disorder. Individuals with infantile neuroaxonal dystrophy experience progressive loss of vision, mental skills and muscular control, and other variable clinical signs. Pathogenic variants in the PLA2G6 gene,… read more here.
Keywords: neuroaxonal dystrophy; pla2g6 gene; family infantile; infantile neuroaxonal ... See more keywords
Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy
Sign Up to like & getrecommendations! Published in 2024 at "Movement Disorders"
DOI: 10.1002/mds.29977
Abstract: Neuroaxonal dystrophy (NAD) is a group of inherited neurodegenerative disorders characterized primarily by the presence of spheroids (swollen axons) throughout the central nervous system. In humans, NAD is heterogeneous, both clinically and genetically. NAD has… read more here.
Keywords: base deletion; neuroaxonal dystrophy; single base; rnf170 single ... See more keywords
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.08.3260
Abstract: Abstract Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene. This gene encodes a calcium-independent group VI phospholipase A2 (iPLA-VI)… read more here.
Keywords: dystrophy; infantile neuroaxonal; family; pla2g6 mutation ... See more keywords
Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2018.00597
Abstract: Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disease that often cuts short the life span of a child to 10 years. With a typical onset at 6 months of age, INAD is characterized by… read more here.
Keywords: gene; infantile neuroaxonal; dystrophy diagnosis; neuroaxonal dystrophy ... See more keywords
Infantile Neuroaxonal Dystrophy: Case Report and Review of Literature
Sign Up to like & getrecommendations! Published in 2024 at "Medicina"
DOI: 10.3390/medicina60081322
Abstract: Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder affecting 1:1,000,000 children. It results from pathogenic variants in the PLA2G6 gene located on chromosome 22q13.1. The onset of symptoms usually occurs between 6 and 18 months,… read more here.
Keywords: report; case report; neuroaxonal dystrophy; case ... See more keywords