Neuroaxonal Dystrophy (Late infantile; NBIA2A)
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Overview
From WUSTL Neuromuscular● Nosology: Seitelberger�s disease; Neurodegeneration with brain iron accumulation 2A Epidemiology: Multiple families Genetics PLA2G6 mutations: V691del; Tyr790Ter; Lys545Thr; Val310Glu; Arg632Trp (Karak syndrome) Allelic disorders Atypical Neuroaxonal Dystrophy: Childhood onset Karak syndrome (NBIA2B) Neurodegeneration with brain iron accumulation 2 (NBIA2A) Parkinson Disease 14, Recessive (PARK14; Dystonia-Parkinson, Adult) Spastic-Ataxia PLA2 enzymes General: Catalyze release of fatty acids from phospholipids PLA2G6 activity high in brain PLA2G6 mutations: Most probably cause loss of functi
Associated Genes
OMIM Entries
External Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.