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Browse result for Neurodegeneration with brain iron accumulation

※ introduction

    Neurodegeneration with brain iron accumulation is a heterogenous group of inherited neurodegenerative diseases, still under research, in which iron accumulates in the basal ganglia, either resulting in progressive dystonia, parkinsonism, spasticity, optic atrophy, retinal degeneration, neuropsychiatric, or diverse neurologic abnormalities. Some of the NBIA disorders have also been associated with several genes in synapse and lipid metabolism related pathways. NBIA is not one disease but an entire group of disorders, characterized by an accumulation of brain iron, sometimes in the presence of axonal spheroids in the central nervous system. Iron accumulation can occur anywhere in the brain, with accumulation typically occurring in globus pallidus, substantia nigra, pars reticula, striatum and cerebellar dentate nuclei. Symptoms can include various movement disorders, neuropsychiatric issues, seizures, visual disturbances, and cognitive decline, usually in different combinations. Ten to fifteen genetic NBIA disorders involving various cell processes have been identified: iron metabolism, coenzyme A biosynthesis, phospholipid metabolism, ceramide metabolism, lysosomal disorders, as well as mutations in genes with unknown functions. Onset can occur at different ages, from early childhood to late adulthood. As of 2021 there were no curative treatments for any of the NBIA disorders, though several medications have been subject to clinical trial including the iron chelator deferiprone.

Reference
Wiki: Neurodegeneration with brain iron accumulation



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02933O607338398
PLA2G6
85/88 kDa calcium-independent phospholipase A2
Homo sapiens
PTMD03688P027922512
FTL
Ferritin light chain
Homo sapiens
PTMD06442Q1305780347
COASY
Bifunctional coenzyme A synthase [Includes: Phosphopantetheine adenylyltransferase ; Dephospho-CoA kinase ]
Homo sapiens
PTMD11112Q96D7185021
REPS1
RalBP1-associated Eps domain-containing protein 1
Homo sapiens
PTMD12387Q9BZ2380025
PANK2
Pantothenate kinase 2, mitochondrial [Cleaved into: Pantothenate kinase 2, mitochondrial intermediate form ; Pantothenate kinase 2, mitochondrial mature form ]
Homo sapiens
PTMD13452Q9NSK783636
C19orf12
Protein C19orf12
Homo sapiens