Results 11 to 20 of about 1,518 (174)

Mitigating the impact of study-start delays in clinical trials for rare disorders: insights and lessons from a PKAN trial [PDF]

Orphanet Journal of Rare Diseases
Background Rare disease clinical trials are notorious for complexities that frequently result in study-start delays. However, there is limited knowledge about how participants and researchers perceive these delays and what factors shape their experiences.
Marleen M. G. Bracke, Sjoukje S. Polet, Mirjam Plantinga, Tom J. de Koning   +3 more
doaj   +3 more sources

Clinical and genetic features of PKAN patients in a tertiary centre in Turkey

Clinical Neurology and Neurosurgery, 2017
Pantothenate kinase-associated neurodegeneration (PKAN) is caused by mutations of the pantothenate kinase 2 (PANK2) gene. The major clinical sign of PKAN is dystonia and the eye-of-the-tiger pattern on the MRI has been a clue for the diagnosis. We aim to discuss clinical and genetic findings of 22 PKAN patients from 13 families.Twenty-two patients were
Nihan Hande Akcakaya, Sibel Uğur Iseri, Esra Battaloğlu   +2 more
exaly   +6 more sources

Mitochondrial iron deficiency triggers cytosolic iron overload in PKAN hiPS-derived astrocytes [PDF]

Cell Death and Disease
Disease models of neurodegeneration with brain iron accumulation (NBIA) offer the possibility to explore the relationship between iron dyshomeostasis and neurodegeneration. We analyzed hiPS-derived astrocytes from PANK2-associated neurodegeneration (PKAN)
Paolo Santambrogio, Anna Cozzi, Chiara Balestrucci, Maddalena Ripamonti, Valeria Berno, Eugenia Cammarota, Andrea Stefano Moro, Sonia Levi   +7 more
doaj   +3 more sources

Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients. [PDF]

Genes (Basel)
Background/Objectives: The most prevalent form of neurodegeneration with brain iron accumulation (NBIA) is pantothenate kinase-associated neurodegeneration (PKAN), caused by mutations in the PANK2 gene. The hallmark of PKAN is the “eye-of-the-tiger” sign, which is characterized by a bilateral region of central hyperintense signal surrounded by a ...
Giuliano M, Borgione E, Lo Giudice M, Di Blasi FD, Santa Paola S, Vitello GA, Elia M, Russo R, Romano C, Scuderi C.   +9 more
europepmc   +4 more sources

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN) [PDF]

Molecular Genetics and Metabolism, 2017
- Clinical experts have developed consensus opinions about the management of PKAN that can serve as a guideline for care. - Guidance is provided for diagnosis and management, treatment and surveillance, including for status dystonicus and other emergency care, and education and psychosocial support. - This guideline is a living document that will
Penelope Hogarth, Manju A Kurian, Allison Gregory   +2 more
exaly   +7 more sources

A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2 [PDF]

Biomolecules, 2022
Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disease caused by mutations in the pantothenate kinase 2 (PANK2) gene and associated with iron deposition in basal ganglia.
Maike Werning, Verena Dobretzberger, Martin Brenner, Ernst W. Müllner, Georg Mlynek, Kristina Djinovic-Carugo, David M. Baron, Lena Fragner, Almut T. Bischoff, Boriana Büchner, Thomas Klopstock, Wolfram Weckwerth, Ulrich Salzer   +12 more
doaj   +2 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, Pedro Roa, Franco Laccone, Britta Kluge, Alexander Tichy, Euripedes De Almeida Ribeiro, Rainer Prohaska, Peter Stoeter, Claudia Siegl, Ulrich Salzer   +9 more
doaj   +2 more sources

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration

Orphanet Journal of Rare Diseases, 2019
Background Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA).
Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking   +12 more
doaj   +3 more sources

Therapeutics development for pantothenate kinase-associated neurodegeneration (PKAN) [PDF]

, 2022
Therapeutics Development for Pantothenate Kinase-Associated NeurodegenerationLay summaryFor more than two decades, research has been underway to understand the biology of and develop treatments for PKAN, an ultra-rare genetic disease affecting children and adults.
Hayflick, Susan
openaire   +3 more sources

Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. [PDF]

PLoS ONE
Pantothenate 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, Suh Young Jeong, Dahlia Wafai, Wayne Tschetter, Dolly Zhen, Susan J Hayflick, Renee C Ryals   +6 more
doaj   +2 more sources