Results 71 to 80 of about 1,671 (156)

PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes

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, Ernst W. Müllner, Georg Mlynek, Verena Dobretzberger, Kristina Djinovic‐Carugo, David M. Baron, Holger Prokisch, Boriana Büchner, Thomas Klopstock, Ulrich Salzer   +9 more
doaj   +1 more source

Dental appliance therapy in pantothenate kinase-associated neurodegeneration: case report

, 2018
Pantothenate kinase‐associated neurodegeneration (PKAN) is a rare condition associated with severe protrusive lingual dystonia, a form of oromandibular dystonia.
Cooper, Thomas, Smith, Leon
core   +1 more source

Very Late‐Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case

Movement Disorders Clinical Practice, Volume 12, Issue 6, Page 835-841, June 2025.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) rarely manifests after the age of 50 years. The phenotype in these cases is most often parkinsonism. Objectives To present the case with the oldest age of NBIA onset reported so far. Methods Clinico‐pathological case.
Jussi O.T. Sipilä, Aki Hietaharju, Anna Maija Saukkonen, Laura Kytövuori, Liisu Balk, Valtteri Kaasinen, Tuomas Rauramaa   +6 more
wiley   +1 more source

HLH‐30/TFEB Rewires the Chaperone Network to Promote Proteostasis Upon Perturbations to the Coenzyme A and Iron–Sulfur Cluster Biosynthesis Pathways

Aging Cell, Volume 24, Issue 6, June 2025.
Proteostasis enhancing treatments are potential therapies for many age‐related diseases. We discovered that interference with the CoA biosynthesis pathway and limiting iron‐sulfur cluster availability improve proteostasis in C. elegans. Proteostasis improvement under these conditions depends on the conserved HLH‐30/TFEB transcription factor, which ...
Rewayd Shalash, Dror Michael Solomon, Mor Levi‐Ferber, Henrik von Chrzanowski, Mohammad Khaled Atrash, Barak Nakar, Matan Yosef Avivi, Hagit Hauschner, Aviya Swisa, Alicia Meléndez, Yaron Shav‐Tal, Sivan Henis‐Korenblit   +11 more
wiley   +1 more source

Patients with Allan‐Herndon‐Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment

Movement Disorders, Volume 40, Issue 5, Page 938-949, May 2025.
Abstract Background Patients with mutations in the monocarboxylate transporter 8 (MCT8, SLC16A2) suffer from X‐linked recessive Allan‐Herndon‐Dudley syndrome (AHDS), which is characterized by developmental delay and a severe movement disorder. Current trials using thyroid hormone derivatives to overcome the transporter defect have failed to achieve ...
Nina‐Maria Wilpert, Angela L. Hewitt, Roser Pons, Marie‐Thérèse Henke, Andrea Dell'Orco, Martin Bauer, Christiane Grolik, Stephan Menz, Monika Wahle, Annika Zink, Alessandro Prigione, Christina Reinauer, Catharina Lange, Christian Furth, Knut Brockmann, Sabine Jung‐Klawitter, Stine Christ, Angela M. Kaindl, Anna Tietze, Heiko Krude, Thomas Opladen, Markus Schuelke   +21 more
wiley   +1 more source

Pantothenate Kinase-Associated Neurodegeneration Causing Paradoxical Vocal Fold Motion

, 2013
We report a patient with paradoxical vocal fold motion (PVFM) due to pantothenate kinase-associated neurodegeneration, a rare neurodegenerative disease and a subclass of neurodegeneration with brain iron accumulation disorders.
Rafizadeh, Sassan, Long, Jennifer L
core   +1 more source

Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation [PDF]

, 2018
50 Páginas; 9 FigurasNeurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric ...
Suarez-Rivero, Juan M., Álvarez-Córdoba, Mónica, Cotán, David, Povea-Cabello, Suleva, Villanueva-Paz, Marina, Salas, Joaquín J., Fernández-Khoury, Aida, Armengol, José A., Talaverón-Rey, Marta, Díaz-Quintana, Antonio, Gómez-Navarro, Carmen, Villalón-García, Irene, Pérez-Villegas, Eva María, Sánchez-Alcázar, José Antonio, Mata, Mario de la   +14 more
core   +1 more source

Pantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutation

, 2008
Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal ...
Tong, SF, Lee, LP, Lam, CW, Chan, KY, Yuen, YP   +4 more
core  

Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an Argentinean young woman [PDF]

, 2010
Neurodegeneration with brain iron accumulation (NBIA) refers to a heterogeneous group of disorders.1–3 The pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by defective iron metabolism associated with ...
Carla Bidinost, Emilia Gatto, Jose L. Etcheverry, Daniela P. Converso, Bidinost, Carla, Converso, Daniela Paola, Gatto, Emilia Mabel, Rosa, Alberto Luis, Alberto Rosa, Etcheverry, Jose L.   +9 more
core   +1 more source

Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Pantothenate kinase ⁃ associated neurodegeneration (PKAN) is a major form of neurodegeneration with brain iron accumulation or NBIA (formerly called Hallervorden ⁃ Spatz syndrome).
Xiao⁃yuan LI, Xian⁃wen CHEN
doaj