PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes [PDF]
Annals of Clinical and Translational Neurology, 2020 Objective Pantothenate kinase 2‐associated neurodegeneration (PKAN) is a rare neurodegenerative disease caused by mutations in the pantothenate kinase 2 (PANK2) gene.
Maike Werning +9 more
doaj +10 more sources
Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD [PDF]
Frontiers in Neurology, 2023 The PANK2 gene, which encodes mitochondrial pantothenate kinase 2 protein, is the disease-causing gene for pantothenate kinase-associated neurodegeneration (PKAN).
Ya Tuo, Yuanfeng Zhang, Xiangjun Chen
exaly +4 more sources
BMC Medical Genetics, 2017 Background Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition.
Hassan Dastsooz +4 more
doaj +4 more sources
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
doaj +2 more sources
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
doaj +2 more sources
Neurobiology of Disease, 2010 Pantothenate kinase 2 (Pank2) is a mitochondrial enzyme that catalyses the first regulatory step of Coenzyme A synthesis and that is responsible for a genetic movement disorder named Pank-associated neurodegeneration (PKAN).
Maura Poli +7 more
doaj +3 more sources
Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2020 Introduction. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, recessively inherited disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13.
Svetel Marina +4 more
doaj +5 more sources
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic. [PDF]
PLoS ONE, 2015 Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2).
Jasmin Schiessl-Weyer +9 more
doaj +2 more sources
Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease
Neuroscience Letters, 2005 Pantothenate kinase-associated neurodegeneration (PKAN) may serve as a model for Parkinson disease (PD) since many PKAN patients suffer from parkinsonism and both conditions lead to iron accumulation in the basal ganglia. We screened the gene coding for pantothenate kinase 2 (PANK2) for sequence variants in PD.
Klopstock, T. +7 more
openaire +4 more sources
Effects of Pallidal Deep Brain Stimulation on Speech and Swallowing in Pediatric Patients with Dystonia. [PDF]
Mov Disord Clin PractAbstract Background Bilateral globus pallidus internus deep brain stimulation (GPi‐DBS) is a proven safe and effective treatment in certain forms of idiopathic or inherited dystonia (ID/IN). Its effects in acquired dystonia such as in dyskinetic cerebral palsy (DCP) however vary widely.
Bernardi K +16 more
europepmc +2 more sources