Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation
نویسندگان
چکیده
منابع مشابه
Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.
The PLA2G6 gene encodes a group VIA calcium independent phospholipase A2 (iPLA2β), which hydrolyses glycerophospholipids to release fatty acids and lysophospholipids. Mutations in PLA2G6 are associated with a number of neurodegenerative disorders including neurodegeneration with brain iron accumulation (NBIA), infantile neuroaxonal dystrophy (INAD), and dystonia parkinsonism, collectively known...
متن کاملneurodegeneration with brain iron accumulation: an overview
how to cite this article: tonekaboni sh, mollamohammadi m. neurodegeneration with brain iron accumulation: an overview. iran j child neurol. 2014 autumn;8(4): 1-8. abstract objective neurodegeneration with brain iron accumulation (nbia) is a group of neurodegenerative disorder with deposition of iron in the brain (mainly basal ganglia) leading to a progressive parkinsonism, spasticity, dystonia...
متن کاملImpaired mitochondrial homeostasis and neurodegeneration: towards new therapeutic targets?
The sustained integrity of the mitochondrial population of a cell is critical for maintained cell health, and disruption of that integrity is linked strongly to human disease, especially to the neurodegenerative diseases. These are appalling diseases causing untold levels of suffering for which treatment is woefully inadequate. Understanding the mechanisms that disturb mitochondrial homeostasis...
متن کاملNeurodegeneration with brain iron accumulation.
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive extrapyramidal disorders with radiographic evidence of focal iron accumulation in the brain, usually in the basal ganglia. Patients previously diagnosed with Hallervorden-Spatz syndrome fall into this category. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive...
متن کاملLate Onset Neurodegeneration with Brain-Iron Accumulation Presenting as Parkinsonism
Neurodegeneration with brain-iron accumulation (NBIA) encompasses a family of neurodegenerative disorders connected by evidence of abnormal brain iron deposition. Advances in imaging and genetic testing expanded the clinical spectrum of these disorders. Here, a case of parkinsonism and dystonia with orofacial stereotypies is presented. While the patient was initially diagnosed with Parkinson's ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Rare Diseases
سال: 2016
ISSN: 2167-5511
DOI: 10.1080/21675511.2015.1128616