Results 11 to 20 of about 1,085 (157)

Adult-Onset Genetic Leukoencephalopathies With Movement Disorders. [PDF]

J Mov Disord, 2023
Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing.
Fu MH, Chang YY.
europepmc   +3 more sources

Genetic Leukoencephalopathies in Adults. [PDF]

Continuum (Minneap Minn), 2016
More than 100 heritable disorders can present with abnormal white matter on neuroimaging. While acquired disorders remain a more common cause of leukoencephalopathy in the adult than genetic causes, the clinician must remain aware of features that suggest a possible genetic etiology.The differential diagnosis of heritable white matter disorders in ...
Vanderver A.
europepmc   +4 more sources

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum [PDF]

American Journal of Medical Genetics Part A, 2020
AbstractBiallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes, and the high allelic polymorphism across SNORD118 in controls, we set out to provide a description of the ...
Yanick J Crow, Heather Marshall, Gillian I Rice, Luis Seabra, Emma M Jenkinson, Kristin Baranano, Roberta Battini, Andrea Berger, Edward Blair, Thomas Blauwblomme, Francois Bolduc, Natalie Boddaert, Johannes Buckard, Heather Burnett, Sophie Calvert, Roseline Caumes, Andy Cheuk‐Him Ng, Diana Chiang, David B Clifford, Duccio M Cordelli, Anna de Burca, Natasha Demic, Isabelle Desguerre, Liesbeth De Waele, Alessio Di Fonzo, S. Richard Dunham, Sarah Dyack, Frances Elmslie, Mickaël Ferrand, Gemma Fisher, Ehsan Ghayoor Karimiani, Jamal Ghoumid, Frances Gibbon, Himanshu Goel, Hilde T Hilmarsen, Imelda Hughes, Anu Jacob, Elizabeth A Jones, Ram Kumar, Richard J Leventer, Shelley MacDonald, Reza Maroofian, Sarju G Mehta, Imke Metz, Edoardo Monfrini, Daniela Neumann, Michael Noetzel, Mary O'Driscoll, Katrin Õunap, Axel Panzer, Sumit Parikh, Prab Prabhakar, Francis Ramond, Richard Sandford, Russell Saneto, Calvin Soh, Chloe A Stutterd, Gopinath M Subramanian, Kevin Talbot, Rhys H Thomas, Camilo Toro, Renaud Touraine, Emma Wakeling, Evangeline Wassmer, Andrea Whitney, John H Livingston, Raymond T O'Keefe, Andrew P Badrock   +67 more
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Teaching NeuroImages: Rare Adult-Onset Genetic Leukoencephalopathy [PDF]

Neurology, 2021
A 34-year-old woman presented with a 1-year history of progressive apathy, executive dysfunction, and memory impairment. Examination revealed moderate frontal dysfunction and bipyramidal signs. MRI brain (figure 1) showed a symmetric leukoencephalopathy sparing subcortical U-fibers.
Pavankumar Rudrabhatla, Sekar Sabarish, Harikrishnan Ramachandran, Sruthi S. Nair   +3 more
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Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy

BMC Neurology, 2022
Background Missense mutations in the mitochondrial alanyl-tRNA synthetase 2 (AARS2) gene are clinically associated with infantile mitochondrial cardiomyopathy or adult-onset leukoencephalopathy with early ovarian failure.
Yan Fan, Jinming Han, Yanyan Yang, Tuanzhi Chen   +3 more
doaj   +1 more source

Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy [PDF]

Frontiers in Neurology, 2020
Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating disorder of the brain caused by reactivation of the JC virus (JCV), a polyomavirus that infects at least 60% of the population but is asymptomatic or results in benign symptoms in most people.
Eis, Peggy, Bruno, Christopher, Richmond, Todd, Koralnik, Igor, Hanson, Barbara, Major, Eugene, Chow, Christina, Hendel-Chavez, Houria, Stankoff, Bruno, Gasnault, Jacques, Taoufik, Yassine, Hatchwell, Eli   +11 more
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ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Human Genomics, 2021
Background Leukodystrophies are the main subgroup of inherited CNS white matter disorders which cause significant mortality and morbidity in early years of life.
Ali Zare Dehnavi, Erfan Heidari, Maryam Rasulinezhad, Morteza Heidari, Mahmoud Reza Ashrafi, Mohammad Mahdi Hosseini, Fatemeh Sadeghzadeh, Mohammad-Sadegh Fallah, Noushin Rostampour, Amir Bahraini, Masoud Garshasbi, Ali Reza Tavasoli   +11 more
doaj   +1 more source

Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies [PDF]

Frontiers in Neurology, 2022
BackgroundProgressive multifocal leukoencephalopathy (PML) is a rare and often lethal brain disorder caused by the common, typically benign polyomavirus 2, also known as JC virus (JCV). In a small percentage of immunosuppressed individuals, JCV is reactivated and infects the brain, causing devastating neurological defects.
Eli Hatchwell, Edward B. Smith, Shapour Jalilzadeh, Christopher D. Bruno, Yassine Taoufik, Houria Hendel-Chavez, Roland Liblau, Roland Liblau, David Brassat, David Brassat, Guillaume Martin-Blondel, Guillaume Martin-Blondel, Heinz Wiendl, Nicholas Schwab, Irene Cortese, Maria Chiara Monaco, Luisa Imberti, Ruggero Capra, Jorge R. Oksenberg, Jacques Gasnault, Bruno Stankoff, Todd A. Richmond, David M. Rancour, Igor J. Koralnik, Barbara A. Hanson, Eugene O. Major, Christina R. Chow, Peggy S. Eis   +27 more
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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
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Clinical and genetic characterization of adult‐onset leukoencephalopathy caused by CSF1R mutations [PDF]

Annals of Clinical and Translational Neurology, 2021
AbstractObjectiveMutations in the colony‐stimulating factor 1 receptor gene (CSF1R) were identified as a cause of adult‐onset inherited leukoencephalopathy. The present study aims at investigating the frequency, clinical characteristics, and functional effects of CSF1R mutations in Taiwanese patients with adult‐onset leukoencephalopathy ...
Pei‐Chien Tsai, Jong‐Ling Fuh, Chih‐Chao Yang, Anna Chang, Li‐Ming Lien, Pei‐Ning Wang, Kuan‐Lin Lai, Yu‐Shuen Tsai, Yi‐Chung Lee, Yi‐Chu Liao   +9 more
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