Results 1 to 10 of about 1,518 (174)

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.
Ernst W Müllner, Georg Mlynek, Kristina Djinović-Carugo   +2 more
exaly   +9 more sources

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN [PDF]

Case Reports in Neurological Medicine, 2017
Objective. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression.
George A Tanteles, Kostas Konstantopoulos, Kleopas A Kleopa   +2 more
exaly   +5 more sources

PKAN pathogenesis and treatment [PDF]

Molecular Genetics and Metabolism, 2022
Studies aimed at supporting different treatment approaches for pantothenate kinase-associated neurodegeneration (PKAN) have revealed the complexity of coenzyme A (CoA) metabolism and the limits of our current knowledge about disease pathogenesis. Here we offer a foundation for critically evaluating the myriad approaches, argue for the importance of ...
Susan J Hayflick, Suh Young Jeong, Ody C M Sibon   +2 more
exaly   +6 more sources

Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A.
Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade, David Rintell   +15 more
doaj   +3 more sources

Case report: Asymmetric bilateral deep brain stimulation for the treatment of pantothenate kinase-associated neurodegeneration in a patient: a unique case of atypical PKAN with a novel heterozygous PANK2 mutation [PDF]

Frontiers in Human Neuroscience
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive hereditary neurodegenerative disorder, usually caused by mutations in the pantothenate kinase 2 (PANK2) gene.
Guo Hong, Xiao-Guang Luo
exaly   +4 more sources

Diagnosis and Treatment of Pantothenate Kinase-Associated Neurodegeneration (PKAN): A Systematic Review [PDF]

Cureus, 2023
A specific type of neurodegeneration with brain iron accumulation (NBIA) falls under the omit phenotypic continuum-early childhood development of progressive pantothenate kinase-associated neurodegeneration (PKAN). Classic PKAN is distinguished from atypical PKAN by stiffness, dystonia, dysarthria, and choreoathetosis.
Pohane MR, Dafre R, Sontakke NG.
exaly   +4 more sources

PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron Accumulation

Frontiers in Cellular Neuroscience, 2022
PKAN disease is caused by mutations in the PANK2 gene, encoding the mitochondrial enzyme pantothenate kinase 2, catalyzing the first and key reaction in Coenzyme A (CoA) biosynthetic process.
Maddalena Ripamonti, Paolo Santambrogio, Gabriella Racchetti   +2 more
exaly   +3 more sources

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, Marta Talaverón-Rey, Suleva Povea-Cabello, Paula Cilleros-Holgado, David Gómez-Fernández, Rocío Piñero-Pérez, Diana Reche-López, Manuel Munuera-Cabeza, Alejandra Suárez-Carrillo, Ana Romero-González, Jose Manuel Romero-Domínguez, Alejandra López-Cabrera, José Ángel Armengol, José Antonio Sánchez-Alcázar   +13 more
doaj   +2 more sources

Serum metabolomics indicates ferroptosis in patients with pantothenate kinase associated neurodegeneration [PDF]

Scientific Reports
The core syndrome among NBIA disorders is pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disorder caused by mutations in the PANK2 gene. There is no therapy for PKAN; only symptomatic treatment is available.
Beata Toczylowska, Marta Skowronska, Iwona Kurkowska-Jastrzebska, Anna Ruszczynska, Elzbieta Zieminska   +4 more
doaj   +2 more sources

Distinct Neurodegenerative Pathways in Two NBIA Subtypes: Inflammatory Activation in C19orf12 but Not in PANK2 Mutation Carriers [PDF]

Cells
Background: Biomarker analysis in neurodegeneration with brain iron accumulation (NBIA) can offer valuable insights into the disease’s pathology and natural history.
Marta Skowrońska, Agnieszka Cudna, Barbara Pakuła, Magdalena Lebiedzińska-Arciszewska, Justyna Janikiewicz, Aneta M. Dobosz, Patrycja Jakubek-Olszewska, Agata Wydrych, Maciej Cwyl, Agnieszka Dobrzyń, Mariusz R. Więckowski, Iwona Kurkowska-Jastrzębska   +11 more
doaj   +2 more sources