Results 21 to 30 of about 24,692 (277)

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

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

Reliability of the telemedicine application of the Gross Motor Function Measure-88 in patients with leukodystrophy

Pediatric Neurology, 2021
Objective: Leukodystrophies are a rare class of disorders characterized by severe neuromotor disability. There is a strong need for research regarding the functional status of people with leukodystrophy which is limited by the need for in person ...
Francesco Gavazzi, L. Adang, Amy T. Waldman, Amanda K. Jan, Geraldine W. Liu, S. Lorch, Sara B. DeMauro, J. Shults, S. Pierce, Elizabeth Ballance, Tracy Kornafel, A. Harrington, A. Glanzman, A. Vanderver   +13 more
semanticscholar   +1 more source

Optical coherence tomography to measure the progression of myelopathy in adrenoleukodystrophy

Annals of Clinical and Translational Neurology, 2021
Objective To prospectively determine the value of optical coherence tomography (OCT) as a surrogate outcome measure for the progression of myelopathy in males with adrenoleukodystrophy.
Wouter J. C. vanBallegoij, Irene C. Huffnagel, Stephanie I. W. van deStadt, Henry C. Weinstein, Carlien A. M. Bennebroek, Marc Engelen, Frank D. Verbraak   +6 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

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

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]

, 2014
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève, Helman, Guy, Leventer, Richard J., McNeill, Nathan H., on behalf of the GLIA Consortium, Parikh, Sumit, Patterson, Marc C., Pizzino, Amy, Rizzo, William B., Schmidt, Johanna L., Simons, Cas, Taft, Ryan J., van der Knaap, Marjo S., van Hove, Johan, Vanderver, Adeline   +14 more
core   +4 more sources

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, A. Rodríguez-Palmero, Valentina Vélez-Santamaría, Laura Planas-Serra, I. de la Calle, M. Raspall-Chaure, A. Roubertie, M. Benkirane, F. Saettini, Lisa Pavinato, G. Mandrile, M. O’Leary, E. O’Heir, Estíbaliz Barredo, Almudena 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

LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family

Annals of Indian Academy of Neurology, 2021
Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life.
Sunita Bijarnia-Mahay, Gaurav Roy, Quasar S Padiath, Renu Saxena, Ishwar Chander Verma   +4 more
doaj   +1 more source

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