Results 41 to 50 of about 5,681 (206)

Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project.: Survey assessing data sharing in leukodystrophies [PDF]

, 2016
International audienceThe purpose of this study was to explore patient and family views on the sharing of their medical data in the context of compiling a European leukodystrophies database.
Moutel, Grégoire, Grégoire Moutel, Odile Boespflug-Tanguy, Champagnat, Julie, Lapointe, Anne-Sophie, Nathalie Duchange, Julie Champagnat, Boespflug-Tanguy, Odile, Darquy, Sylviane, Diane D'Audiffret, d'Audiffret, Diane, Guerroui, Samia, Duchange, Nathalie, Samia Guerroui, Anne-Sophie Lapointe, Vendeville, Marie-Louise, Marie-Louise Vendeville, Sylviane Darquy   +17 more
core   +1 more source

The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders

Frontiers in Neurology, 2022
IntroductionAdult genetic leukoencephalopathies are rare neurological disorders that present unique diagnostic challenges due to their clinical and radiological overlap with more common white matter diseases, notably multiple sclerosis (MS).
Yu Tong Huang, Paul S. Giacomini, Rami Massie, Sunita Venkateswaran, Anne-Marie Trudelle, Giulia Fadda, Maryam Sharifian-Dorche, Hayet Boudjani, Laurence Poliquin-Lasnier, Laura Airas, Alexander W. Saveriano, Matthias Georg Ziller, Matthias Georg Ziller, Elka Miller, Claudia Martinez-Rios, Nagwa Wilson, Jorge Davila, Carolina Rush, Erin E. Longbrake, Giulia Longoni, Gabrielle Macaron, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Donatella Tampieri, Jack Antel, Bernard Brais, Roberta La Piana, Roberta La Piana   +29 more
doaj   +1 more source

Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies

Frontiers in Neurology, 2019
The white matter disease spectrum is associated with many genetic diseases, including AARS2, CADASIL, ALD, and others. In this study, to determine the novel alanyl-tRNA synthetase 2 mutation implicated in white matter disease, several families with an ...
Xingao Wang, Xingao Wang, Qun Wang, Qun Wang, Qun Wang, Qun Wang, Hefei Tang, Hefei Tang, Bin Chen, Bin Chen, Xiang Dong, Songtao Niu, Songtao Niu, Shaowu Li, Yuzhi Shi, Yuzhi Shi, Wei Shan, Wei Shan, Wei Shan, Wei Shan, Zaiqiang Zhang, Zaiqiang Zhang   +21 more
doaj   +1 more source

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches

Frontiers in Cellular Neuroscience, 2021
Leukodystrophies are a class of rare inherited central nervous system (CNS) disorders that affect the white matter of the brain, typically leading to progressive neurodegeneration and early death. Hypomyelinating leukodystrophies are characterized by the
Stefanie Perrier, Stefanie Perrier, Mackenzie A. Michell-Robinson, Mackenzie A. Michell-Robinson, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard   +8 more
doaj   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

International Journal of Neonatal Screening
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease.
Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Antonello, Filippo Arrigoni, Marina Balestriero, Barbara Borsani, Laura Cappelletti, Elisa Cattaneo, Matilde Ferrario, Giulia Fiore, Maria Iascone, Giana Izzo, Simona Lucchi, Cecilia Parazzini, Michela Perrone Donnorso, Luigina Spaccini, Ylenia Vaia, Pierangelo Veggiotti, Elvira Verduci, Gianvincenzo Zuccotti, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group   +23 more
doaj   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

The Role of Microglia in Inherited White-Matter Disorders and Connections to Frontotemporal Dementia

The Application of Clinical Genetics, 2021
Daniel W Sirkis,1 Luke W Bonham,1,2 Jennifer S Yokoyama1,2 1Memory and Aging Center, Department of Neurology, University of California San Francisco, San Francisco, CA, 94158, USA; 2Department of Radiology & Biomedical Imaging, University of ...
Sirkis DW, Bonham LW, Yokoyama JS
doaj  

Evaluating discrepancies between high‐yield neuroscience conditions in preclerkship medical education and national clinical incidence

Anatomical Sciences Education, EarlyView.
Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley   +1 more source

Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms [PDF]

, 2017
Leukodystrophies are genetically determined disorders characterized by the selective involvement of the central nervous system white matter. Onset may be at any age, from prenatal life to senescence.
Marjo S. van der Knaap, Marianna Bugiani, Bugiani, Marianna, van der Knaap, Marjo S.   +3 more
core   +1 more source