Results 21 to 30 of about 16,959 (263)

Case report: Treatment of advanced CSF1-receptor associated leukoencephalopathy with hematopoietic stem cell transplant

Frontiers in Neurology, 2023
CSF1 receptor-related leukoencephalopathy is a rare genetic disorder presenting with severe, adult-onset white matter dementia as one of the leading symptoms.
Caroline G. Bergner, Lisa Schäfer, Vladan Vucinic, Birthe Schetschorke, Julia Lier, Cordula Scherlach, Michael Rullmann, Osama Sabri, Joseph Classen, Uwe Platzbecker, Jörn-Sven Kühl, Henryk Barthel, Wolfgang Köhler, Georg-Nikolaus Franke   +13 more
doaj   +1 more source

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

Frontiers in Medicine, 2020
Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems.
A. Shaimardanova, D. Chulpanova, V. Solovyeva, A. Mullagulova, K. Kitaeva, C. Allegrucci, A. Rizvanov   +6 more
semanticscholar   +1 more source

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Brain : a journal of neurology, 2021
Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise ...
E. Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaría, Laura Planas-Serra, Irene de la Calle, M. Raspall-Chaure, A. Roubertie, M. Benkirane, F. Saettini, Lisa Pavinato, G. Mandrile, M. O’Leary, Emily O’Heir, Estíbaliz Barredo, A. Chacón, V. Michaud, C. Goizet, M. Ruiz, A. Schlüter, I. Rouvet, Júlia Sala-Coromina, Chiara Fossati, M. Iascone, F. Canonico, A. Marcé-Grau, Precilla de Souza, D. Adams, C. Casasnovas, H. Rehm, H. Mefford, L. González Gutiérrez-Solana, A. Brusco, M. Koenig, A. Macaya, A. Pujol   +34 more
semanticscholar   +1 more source

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy

Frontiers in Physiology, 2020
BackgroundMyelopathy is the core clinical manifestation of adrenoleukodystrophy (ALD), which is the most common peroxisomal disorder. Development of therapies requires sensitive and clinically relevant outcome measures. Together with spastic paraparesis,
Wouter J. C. van Ballegoij, Wouter J. C. van Ballegoij, Stephanie I. W. van de Stadt, Irene C. Huffnagel, Stephan Kemp, Stephan Kemp, Marjo S. van der Knaap, Marjo S. van der Knaap, Marc Engelen   +8 more
doaj   +1 more source

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Brain : a journal of neurology, 2021
Leukodystrophies are a heterogeneous group of rare inherited disorders that involve preferentially the white matter of the central nervous system (CNS).
A. Sferra, P. Fortugno, M. Motta, C. Aiello, S. Petrini, A. Ciolfi, F. Cipressa, I. Moroni, V. Leuzzi, L. Pieroni, Federica Marini, Odile Boespflug Tanguy, E. Eymard‐Pierre, F. R. Danti, C. Compagnucci, G. Zambruno, A. Brusco, F. Santorelli, L. Chiapparini, P. Francalanci, A. Loizzo, M. Tartaglia, G. Cestra, E. Bertini   +23 more
semanticscholar   +1 more source

Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA

Annals of Clinical and Translational Neurology, 2023
Objective Mucopolysaccharidosis type IIIA (MPSIIIA) caused by recessive SGSH variants results in sulfamidase deficiency, leading to neurocognitive decline and death. No disease‐modifying therapy is available.
Marianna Bugiani, Truus E. M. Abbink, Arthur W. D. Edridge, Lia van derHoek, Anne E. J. Hillen, Niek P. vanTil, Gino V. Hu‐A‐Ng, Marjolein Breur, Karen Aiach, Philippe Drevot, Michaël Hocquemiller, Ralph Laufer, Frits A. Wijburg, Marjo S. van derKnaap   +13 more
doaj   +1 more source

POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?

Faculty Reviews, 2021
Hypomyelinating leukodystrophies are a group of genetic disorders characterized by insufficient myelin deposition during development. A subset of hypomyelinating leukodystrophies, named RNA polymerase III (Pol III or POLR3)-related leukodystrophy or 4H ...
B. Coulombe, A. Derksen, R. La Piana, B. Brais, M. Gauthier, G. Bernard   +5 more
semanticscholar   +1 more source

Hypomyelinating leukodystrophies in adults [PDF]

European Journal of Neurology, 2021
International ...
openaire   +5 more sources

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

Biomedicines, 2022
Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_007055.3)
Antonino Musumeci, Francesco Calì, Carmela Scuderi, Mirella Vinci, Girolamo Aurelio Vitello, Sebastiano Antonino Musumeci, Valeria Chiavetta, Concetta Federico, Greta Amore, Salvatore Saccone, Gabriella Di Rosa, Antonio Gennaro Nicotera   +11 more
doaj   +1 more source

Alexander Disease

Journal of the Belgian Society of Radiology, 2021
Main teaching point: The main differential diagnosis of leukodystrophy associated with macrocephaly consists of Alexander disease, Canavan disease, and megalencephalic leukodystrophy with subcortical cysts.
Laura Hartog, Sven Dekeyzer, Stephanie Vanden Bossche   +2 more
doaj   +1 more source