Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.
Reza HajatiMaziar EmamikhahFardad Danaee FardMohammad RohaniAfagh AlaviPublished in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2021)
Neurodegeneration with brain iron accumulation (NBIA) is a term used for a group of hereditary neurological disorders with abnormal accumulation of iron in basal ganglia. It is clinically and genetically heterogeneous with symptoms such as dystonia, dysarthria, Parkinsonism, intellectual disability, and spasticity. The age at onset and rate of progression are variable among individuals. Current therapies are exclusively symptomatic and unable to hinder the disease progression. Approximately 16 genes have been identified and affiliated to such condition with different functions such as iron metabolism (only two genes: Ferritin Light Chain (FTL) Ceruloplasmin (CP)), lipid metabolism, lysosomal functions, and autophagy process, but some functions have remained unknown so far. Subgroups of NBIA are categorized based on the mutant genes. Although in the last 10 years, the development of whole-exome sequencing (WES) technology has promoted the identification of disease-causing genes, there seem to be some unknown genes and our knowledge about the molecular aspects and pathogenesis of NBIA is not complete yet. There is currently no comprehensive study about the NBIA in Iran; however, one of the latest discovered NBIA genes, GTP-binding protein 2 (GTPBP2), has been identified in an Iranian family, and there are some patients who have genetically remained unknown.
Keyphrases
- bioinformatics analysis
- genome wide
- intellectual disability
- genome wide identification
- healthcare
- binding protein
- resting state
- newly diagnosed
- ejection fraction
- white matter
- preterm infants
- signaling pathway
- depressive symptoms
- dna methylation
- spinal cord injury
- physical activity
- functional connectivity
- chronic kidney disease
- endoplasmic reticulum stress
- cerebral ischemia
- sleep quality
- deep brain stimulation