Results 41 to 50 of about 18,329 (223)

Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition. [PDF]

Pharmaceuticals (Basel), 2019
Neurodegeneration with brain iron accumulation (NBIA) is a set of neurodegenerative disorders, which includes very rare monogenetic diseases. They are heterogeneous in regard to the onset and the clinical symptoms, while the have in common a specific ...
Levi S, Tiranti V.
europepmc   +2 more sources

Abnormal brain iron metabolism in Irp2 deficient mice is associated with mild neurological and behavioral impairments. [PDF]

PLoS ONE, 2014
Iron Regulatory Protein 2 (Irp2, Ireb2) is a central regulator of cellular iron homeostasis in vertebrates. Two global knockout mouse models have been generated to explore the role of Irp2 in regulating iron metabolism.
Kimberly B Zumbrennen-Bullough, Lore Becker, Lillian Garrett, Sabine M Hölter, Julia Calzada-Wack, Ilona Mossbrugger, Leticia Quintanilla-Fend, Ildiko Racz, Birgit Rathkolb, Thomas Klopstock, Wolfgang Wurst, Andreas Zimmer, Eckhard Wolf, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabě de Angelis, Steven J Romney, Elizabeth A Leibold   +17 more
doaj   +1 more source

Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories.

, 2016
Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterised by dystonia, parkinsonism and spasticity. Iron accumulates in the basal ganglia and may be accompanied by Lewy bodies, axonal swellings and hyperphosphorylated ...
Arber, C, Houlden, H, H. Houlden, C. E. Arber, S. Wray, Wray, S, A. Li, Li, A   +7 more
core   +1 more source

Iron deficiency in parkinsonism : region-specific iron dysregulation in Parkinson's disease and multiple system atrophy [PDF]

Alpha synuclein pathology is widespread and found in diverse cell types in multiple system atrophy (MSA) as compared to Parkinson's disease (PD). The reason for this differential distribution is unknown.
Visanji, Naomi P., Finnegan, Mary E., Collingwood, Joanna F., Hazrati, Lili-Naz, Tandon, Anurag, House, Emily   +5 more
core   +1 more source

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

, 2013
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one another
Carey, M., Harik, Sami I., Cuno, Stephan M., Gregory, Allison, Hardy, John, Cuno, S.M., Hogarth, Penelope, Lin, Jean-Pierre, Houlden, H.H., Mignot, C., Hogarth, P., Dandu, V.H., Boddaert, Nathalie, Hardy, J., Mignot, Cyril, Crisp, Sarah, Dandu, Vasuki H., Zorzi, G., Haack, T.B., Hayflick, S.J., Hayflick, Susan J., Boddaert, N., Tereszkowska-Kaminska, Margaret, Frucht, Steven, Lin, J.P., Prokisch, H., Bhatia, Kailash, Heron, Delphine, Haack, Tobias B., Harik, S.I., Skinner, Steven, Prokisch, Holger, Nardocci, N., Schrander-Stumpel, Connie, Gregory, A., Lunt, P., Tarnopolsky, Mark, Skinner, S., Hanspal, E., Tarnopolsky, M., Lunt, Peter, Saunders, Dawn E., Lascelles, Karine, Schrander-Stumpel, C., Anderson, J., Dunaway, T., Holden, K.R., Holden, Kenton R., Meitinger, Thomas, Dunaway, Todd, Bhatia, K., Hanspal, Era, de Silva, R., Kurian, Manju A., Carey, Martyn, Meyer, E., Sanford, L., Frucht, S., Heron, D., Garavaglia, Barbara, Kaminska, M., Nardocci, Nardo, Meyer, Esther, Crisp, S., Kaminska, Margaret, Kurian, M.A., Houlden, Henry H., Meitinger, T., de Silva, Rajith, Zorzi, Giovanna, Sanford, Lynn, Saunders, D.E., Kruer, M.C., Kruer, Michael C., Garavaglia, B., Anderson, James, Lascelles, K.   +76 more
core   +2 more sources

Reprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene

Stem Cell Research, 2020
Mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as one of the causative genes for neurodegeneration with brain iron accumulation (NBIA).
Han-Yi Lin, Chih-Hsin Ou-Yang, Chin-Hsien Lin   +2 more
doaj   +1 more source

SCP2 mutations and neurodegeneration with brain iron accumulation. [PDF]

Neurology, 2015
Mutations in PANK2 , PLA2G6 , C19orf12 , FA2H , ATP13A2 , WDR45 , COASY , FTL , CP , and DCAF17 cause neurodegeneration with brain iron accumulation (NBIA), but the genetic etiology remains undefined in many patients. We report the second patient with sterol carrier protein x (SCPx) deficiency presenting with adult-onset spinocerebellar ataxia and ...
Horvath R, Lewis-Smith D, Douroudis K, Duff J, Keogh M, Pyle A, Fletcher N, Chinnery PF.   +7 more
europepmc   +5 more sources

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Pantothenate kinase-associated neurodegeneration (Hallerworden–Spatze disease): clinical aspects, diagnosis, treatment (literature review and own data)

Zaporožskij Medicinskij Žurnal, 2021
Aim. To analyze current data of scientific literature on the etiology, pathogenesis, approaches to the diagnosis and treatment of rare orphan disease – pantothenate kinase-associated neurodegeneration and to describe the clinical case of this disease.
Yu. H. Antypkin, L. H. Kyrylova, O. O. Miroshnykov, O. O. Yuzva, L. Yu. Silaieva, O. V. Berehela, L. A. Myroniak   +6 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source