Novel Mutations in ATP13A2 Associated with Mixed Neurological Presentations and Iron Toxicity due to Nonsense-Mediated Decay.

CONCLUSIONS: Novel frameshift mutation causing a PTC inATP13A2lead to degradation of ATP13A2 mRNA by NMD. Iron accumulation due to the absence of ATP13A2 protein in the patient's fibroblasts and hypointense areas on T2-weighted images may expand the spectrum of KRS to consider it as neurodegeneration with brain iron accumulation disorders. PMID: 33091395 [PubMed - as supplied by publisher]
Source: Brain Research - Category: Neurology Authors: Tags: Brain Res Source Type: research