Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration
Abstract
:1. Introduction
2. Friedreich’s Ataxia
3. Neurodegenerative Disorders with Brain Iron Accumulation
4. Neuromuscular Diseases
5. Inherited Retinal Dystrophies
6. Rare Epilepsies
6.1. Progressive Myoclonus Epilepsies (PMEs)
6.1.1. Unverricht–Lundborg Disease (ULD)
6.1.2. Lafora Disease (LD)
6.2. Dravet Syndrome
6.3. Oxidative Stress and Neuroinflammation as Therapeutic Targets in Rare Epilepsies
7. Conclusions
Funding
Conflicts of Interest
References
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NBIA form | MIM # | Frequency Inheritance | Gene MIM * | Protein Location | Pathway |
---|---|---|---|---|---|
Pantothenate kinase-associated neurodegeneration (PKAN) | 234200 | 35%–50% AR | PANK2 606157 | Mitochondria | CoA synthesis (fatty acid metabolism) |
Phospholipase 2, group VI-associated neurodegeneration (PLAN) | 610217 | 20% AR | PLA2G6 603604 | Mitochondria, ER, cytosol | Membrane phospholipids turnover |
Mitochondrial membrane protein-associated neurodegeneration (MPAN) | 614298 | 6%–10% AR | C19ORF12 614297 | Mitochondria, ER, MAM | Lipid metabolism ? Membrane remodeling ? |
β-propeller-associated neurodegeneration (BPAN) | 300894 | 1%–2% XD | WDR45 300526 | ER | Autophagy |
Fatty acid hydroxylase-associated neurodegeneration (FA2H) | 612319 | Rare AR | FA2H 611026 | ER | Lipid metabolism Membrane remodeling |
Neuroferritinopathy (NF) | 606159 | Rare AD | FTL1 134790 | Cytosol | Iron homeostasis |
Aceruloplasminemia | 604290 | Rare AR | CP 117700 | Plasma membrane | Iron homeostasis |
Woodhouse-Sakati syndrome | 241080 | Rare AR | DCAF17 612515 | Nucleolus | Unknown |
Kufor-Rakeb syndrome | 606693 | 2 probands AR | ATP13A2 610513 | Lysosome, mitochondria | Autophagy |
COASY protein-associated neurodegeneration (CoPAN) | 615643 | 4 probands AR | COASY 609855 | Mitochondria, cytosol | CoA synthesis (fatty acid metabolism) |
Jaberi-Elahi syndrome (JABELS) + NBIA | 617988 | 1 family AR | GTPBP2 607434 | Cytoplasm | Unknown |
Leukoencephalopathy with dystonia and motor neuropathy + NBIA | 613724 | 1 proband AR | SCP2 184755 | Peroxisomes | Lipid metabolism Membrane remodeling |
NBIA7 | 617916 | 1 family AR | REPS1 614825 | Cytoplasm, endosome | Endocytosis Vesicle transport |
Hereditary spastic paraplegia + NBIA | 612936 | 1 family AR | AP4M1 602296 | Endosome | Vesicle formation |
NBIA8 | 617917 | 1 proband AR | CRAT 600184 | Mitochondria | Lipid metabolism |
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Espinós, C.; Galindo, M.I.; García-Gimeno, M.A.; Ibáñez-Cabellos, J.S.; Martínez-Rubio, D.; Millán, J.M.; Rodrigo, R.; Sanz, P.; Seco-Cervera, M.; Sevilla, T.; et al. Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration. Antioxidants 2020, 9, 313. https://doi.org/10.3390/antiox9040313
Espinós C, Galindo MI, García-Gimeno MA, Ibáñez-Cabellos JS, Martínez-Rubio D, Millán JM, Rodrigo R, Sanz P, Seco-Cervera M, Sevilla T, et al. Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration. Antioxidants. 2020; 9(4):313. https://doi.org/10.3390/antiox9040313
Chicago/Turabian StyleEspinós, Carmen, Máximo Ibo Galindo, María Adelaida García-Gimeno, José Santiago Ibáñez-Cabellos, Dolores Martínez-Rubio, José María Millán, Regina Rodrigo, Pascual Sanz, Marta Seco-Cervera, Teresa Sevilla, and et al. 2020. "Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration" Antioxidants 9, no. 4: 313. https://doi.org/10.3390/antiox9040313