Results 41 to 50 of about 1,518 (174)

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans [PDF]

Journal of Movement Disorders, 2016
Objective Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia.
Jae-Hyeok Lee, Jongkyu Park, Ho-Sung Ryu, Hyeyoung Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young-Hee Sung, Seung-Hwan Lee, Jee-Young Lee, Myung Jun Lee, Tae-Hyoung Kim, Chul Hyoung Lyoo, Sun Ju Chung, Seong Beom Koh, Phil Hyu Lee, Jin Whan Cho, Mee Young Park, Yun Joong Kim, Young H. Sohn, Beom Seok Jeon, Myung Sik Lee   +21 more
doaj   +1 more source

Fibroblasts and hiPS-Derived Astrocytes From CoPAN Patients Showed Different Levels of Iron Overload Correlated With Senescent Phenotype. [PDF]

Glia
Main Points CoPAN affects CoA biosynthesis and leads to iron dyshomeostasis. CoPAN d‐astrocytes show ferroptosis, iron accumulation, senescence, lipid peroxidation, mitochondrial damage and tubulin acetylation loss. Astrocytes recapitulate CoPAN disease.
Cozzi A, Santambrogio P, Moro AS, Pelagatti A, Rubio A, Balestrucci C, Di Meo I, Tiranti V, Levi S.   +8 more
europepmc   +2 more sources

Phenotypes and Genotypes of Patients with Pantothenate Kinase-Associated Neurodegeneration in Asian and Caucasian Populations: 2 Cases and Literature Review

The Scientific World Journal, 2013
Objectives. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease caused by pantothenate kinase 2 (PANK2, OMIM 606157) mutations. This study is aimed to investigate clinical presentations, pathologies, and genetics in patients with ...
Chih-Hong Lee, Chin-Song Lu, Wen-Li Chuang, Tu-Hsueh Yeh, Shih-Ming Jung, Chia-Ling Huang, Szu-Chia Lai   +6 more
doaj   +1 more source

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, Marina Villanueva-Paz, Irene Villalón-García, Suleva Povea-Cabello, Juan M Suárez-Rivero, Marta Talaverón-Rey, Javier Abril-Jaramillo, Ana Belén Vintimilla-Tosi, José A Sánchez-Alcázar   +8 more
doaj   +1 more source

Dystonia Scales for Children: Challenges and Obstacles in DBS Practice. [PDF]

Mov Disord Clin Pract
Abstract Background Dystonia in pediatric patients often coexists with other movement disorders and neurodevelopmental issues. Current rating scales for evaluating pediatric deep brain stimulation (DBS) candidates are not universally applicable and often require a non‐validated combination of the existing scales.
Montiel M, Gorodetsky C, Cif L, Nardocci N, Fasano A.   +4 more
europepmc   +2 more sources

Additional file 1 of Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

, 2023
Additional file 1: Table S1.
Andrea Valle (193306), David Rintell (16916334), Angelika Klucken (16916316), Antonio López (309209), Fatemeh Mollet (16916319), Belen Perez-Duenas (16916322), Marta Skowronska (16916325), Anna Wade (15096350), Patricia Wood (12310229), Roberta Scalise (289250), Saadet Mercimek-Andrews (4526929), Magdalena Chroscinska-Krawczyk (16916328), Maria Luisa Escolar (16916331), Maciej Cwyl (16916313), Agnieszka Jurecka (16916310), Thomas Klopstock (160225)   +15 more
core   +1 more source

Additional file 3 of Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

, 2023
Additional file 3: PKAN Patient ...
Andrea Valle (193306), David Rintell (16916334), Angelika Klucken (16916316), Antonio López (309209), Fatemeh Mollet (16916319), Belen Perez-Duenas (16916322), Marta Skowronska (16916325), Anna Wade (15096350), Patricia Wood (12310229), Roberta Scalise (289250), Saadet Mercimek-Andrews (4526929), Magdalena Chroscinska-Krawczyk (16916328), Maria Luisa Escolar (16916331), Maciej Cwyl (16916313), Agnieszka Jurecka (16916310), Thomas Klopstock (160225)   +15 more
core   +1 more source

Case report: MR spectroscopy in pantothenate kinase-2 associated neurodegeneration

Indian Journal of Radiology and Imaging, 2010
We report a case of a 13-year-old girl with Hallervorden-Spatz disease (HSD) or pantothenate kinase-2 associated neurodegeneration (PKAN). HSD is a rare neurodegenerative disorder, which is characterized by a rapidly progressive extrapyramidal syndrome ...
Umesh C Parashari, Pallavi Aga, Anit Parihar, Ragini Singh, Vindhya Joshi   +4 more
doaj   +1 more source

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

Orphanet Journal of Rare Diseases, 2022
Background Neurodegeneration with brain iron accumulation describes a group of rare heterogeneous progressive neurodegenerative disorders characterized by excessive iron accumulation in the basal ganglia region.
Dahae Yang, Sanghyun Cho, Sung Im Cho, Manjin Kim, Moon-Woo Seong, Sung Sup Park   +5 more
doaj   +1 more source

Additional file 2 of Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

, 2023
Additional file 2: Table S2.
Andrea Valle (193306), David Rintell (16916334), Angelika Klucken (16916316), Antonio López (309209), Fatemeh Mollet (16916319), Belen Perez-Duenas (16916322), Marta Skowronska (16916325), Anna Wade (15096350), Patricia Wood (12310229), Roberta Scalise (289250), Saadet Mercimek-Andrews (4526929), Magdalena Chroscinska-Krawczyk (16916328), Maria Luisa Escolar (16916331), Maciej Cwyl (16916313), Agnieszka Jurecka (16916310), Thomas Klopstock (160225)   +15 more
core   +1 more source