Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration [PDF]
Case Reports in Radiology, 2021 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2).
S. Choayb +5 more
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Proposed Therapies for Pantothenate-Kinase-Associated Neurodegeneration [PDF]
Journal of Experimental Neuroscience, 2019 Multiple approaches to therapy have been proposed for the rare inherited neurodegenerative disease associated with mutations in the PANK2 gene, called pantothenate-kinase-associated neurodegeneration (PKAN).
Suzanne Jackowski
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Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family [PDF]
Heliyon, 2021 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare hereditary neurodegenerative disease characterized by an accumulation of iron within the brain.
Ali S. Shalash +8 more
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Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Neurodegeneration with brain iron accumulation (NBIA) disorders are a group of neurodegenerative diseases that have in common the accumulation of iron in the basal nuclei of the brain which are essential components of the extrapyramidal system.
Marta Talaverón-Rey +12 more
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Patient-Derived Cellular Models for Polytarget Precision Medicine in Pantothenate Kinase-Associated Neurodegeneration [PDF]
Pharmaceuticals, 2023 The term neurodegeneration with brain iron accumulation (NBIA) brings together a broad set of progressive and disabling neurological genetic disorders in which iron is deposited preferentially in certain areas of the brain. Among NBIA disorders, the most
Mónica Álvarez-Córdoba +13 more
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Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity ...
Mónica Álvarez-Córdoba +10 more
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Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review [PDF]
Frontiers in Neurology, 2023 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy.
Yilun Tao +7 more
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Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity,
Mónica Álvarez-Córdoba +8 more
doaj +2 more sources
Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Neurodegeneration with brain iron accumulation describes a group of rare heterogeneous progressive neurodegenerative disorders characterized by excessive iron accumulation in the basal ganglia region.
Dahae Yang +5 more
doaj +2 more sources
Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. [PDF]
PLoS ONEPantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive movement and vision disorder in the neurodegeneration with brain iron accumulation family of diseases. PKAN is caused by mutations in PANK2, encoding pantothenate kinase 2,
Grace Li-Na Su +6 more
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