Results 11 to 20 of about 1,671 (156)
Precision medicine in pantothenate kinase-associated neurodegeneration
Neural Regeneration Research, 2019 Neurodegeneration with brain iron accumulation is a broad term that describes a heterogeneous group of progressive and invalidating neurologic disorders in which iron deposits in certain brain areas, mainly the basal ganglia.
Mónica Alvarez-Cordoba +8 more
doaj +6 more sources
Pathology and treatment methods in pantothenate kinase-associated neurodegeneration [PDF]
Advances in Psychiatry and NeurologyThe purpose of this review is to present current scientific reports on the pathophysiology, diagnosis and treatment of pantothenate kinase-associated neurodegeneration (PKAN).The condition is caused by a mutation in the PANK2 gene, which results in iron accumulation in the brain and changes in the functioning of biochemical pathways dependent on ...
Robert Kwinta +2 more
doaj +5 more sources
A therapeutic approach to pantothenate kinase associated neurodegeneration [PDF]
Nature Communications, 2018 Mutations in pantotenate kinase (PANK) cause neurodegneration. Here the authors carry out achemical screen and identify a PANK activator that is orally available, crosses the blood brain barrierand show that it effecttive in improving pathology and life ...
Lalit Kumar Sharma +7 more
doaj +5 more sources
Pantothenate Kinase-Associated Neurodegeneration [PDF]
Koc D: Pantothenate kinase-associated neurodegeneration, 2020 Neurodegeneration with brain iron accumulation is a group of disorders, the commonest of which is PKAN (Pantothenate kinase associated neurodegeneration).
Sandra M.H. Nordlie +3 more
core +7 more sources
Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration [PDF]
Case Reports in Neurological Medicine, 2015 Pantothenate kinase-associated neurodegeneration (PKAN) is usually associated with dystonia, which is typically severe and progressive over time. Pallidal stimulation (GPi DBS) has been carried out in selected cases of PKAN with drug-resistant dystonia ...
Pedro J. Garcia-Ruiz +4 more
doaj +5 more sources
Late Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration [PDF]
Case Reports in Neurological Medicine, 2013 Introduction. Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare genetic disease and a form of neurodegeneration with brain iron accumulation (NBIA).
Natalie Diaz
doaj +4 more sources
Pantothenate Kinase-Associated Neurodegeneration [PDF]
Current Drug Targets, 2012 Pantothenate kinase-associated neurodegeneration (PKAN) is a hereditary progressive disorder and the most frequent form of neurodegeneration with brain iron accumulation (NBIA). PKAN patients present with a progressive movement disorder, dysarthria, cognitive impairment and retinitis pigmentosa.
Monika B. Hartig +3 more
core +8 more sources
Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration [PDF]
Journal of Movement Disorders, 2009 Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder that is characterized by mutations in the pantothenate kinase 2 gene (PANK2) and typical magnetic resonance imaging findings.
Sung-Hyouk Kim +6 more
doaj +2 more sources
SAGE Open Medical Case Reports, 2017 Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in PANK2 gene (20p13) are responsible for classic and atypical cases.
George P Paraskevas +6 more
doaj +4 more sources
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration [PDF]
Movement Disorders, 2021 AbstractBackgroundPantothenate kinase–associated neurodegeneration (PKAN) currently has no approved treatments.ObjectivesThe Fosmetpantotenate Replacement Therapy pivotal trial examined whether treatment with fosmetpantotenate improves PKAN symptoms and stabilizes disease progression.MethodsThis randomized, double‐blind, placebo‐controlled, multicenter
Thomas Klopstock +2 more
exaly +9 more sources