Results 1 to 10 of about 4,917 (113)

Gene and Cellular Therapies for Leukodystrophies

Pharmaceutics, 2023
Leukodystrophies are a heterogenous group of inherited, degenerative encephalopathies, that if left untreated, are often lethal at an early age. Although some of the leukodystrophies can be treated with allogeneic hematopoietic stem cell transplantation,
Niek P van Til, Fatma Aerts-Kaya, Van Til Niek P   +2 more
exaly   +3 more sources

Inpatient Deaths in Pediatric Leukodystrophies [PDF]

Annals of the Child Neurology Society
Background and Objectives Leukodystrophies are neurogenetic diseases affecting the white matter of the central nervous system. The contributing factors for leukodystrophy mortality are incompletely understood.
Hannah S. Hart, Kalista L. Vordos, Caroline T. Flood, Darin J. Isakson, Alfredo Novoa, Joshua L. Bonkowsky   +5 more
doaj   +2 more sources

Cognitive and intellectual functioning in leukodystrophy patients: a systematic review [PDF]

Orphanet Journal of Rare Diseases
Background ‘Leukodystrophies’ encompass a group of genetic disorders affecting brain white matter, mostly characterized by neurological deterioration.
Wietske H. M. Grol, Marjo S. van der Knaap, Nicole I. Wolf, Gert J. Geurtsen   +3 more
doaj   +2 more sources

Diagnostic value of quantitative MR spectroscopy metabolite ratios for Canavan disease [PDF]

Frontiers in Radiology
PurposeCanavan disease (CD) is a leukodystrophy marked by deficiency in the aspartoacylase enzyme and accumulation of N-acetyl aspartate (NAA) in the white matter. MRI and MRS are crucial diagnostic tools for CD.
Majid Reza Tahsini, Marzena Wylezinska-Arridge, Mohammad Zare, Sasan Saket, Mohammad Aidin Farahvash, Mahdis Morovvati, Elham Rahimian, Sotirios Bisdas, Sotirios Bisdas, Sotirios Bisdas   +9 more
doaj   +2 more sources

Rigorous genetic diagnosis review in natural history studies [PDF]

Orphanet Journal of Rare Diseases
Background Leukodystrophies are a clinically and genetically heterogeneous group of diseases characterized by white matter abnormalities on brain magnetic resonance imaging.
Amy Pizzino, Kaley Arnold, Emma Wiener, Kayla Muirhead, Johanna Schmidt, Carlos A. Dominguez-Gonzalez, Pooja Banglorewala, Jamie L. Fraser, Maura Ruzhnikov, Julie S. Cohen, Omar Sherbini, Rachel Logan, Francesco Gavazzi, Anjana Sevagamoorthy, Ariel Vincent, Russell D’Aiello, Adeline Vanderver   +16 more
doaj   +2 more sources

Emerging Role of Ubiquitin Proteasome System and Autophagy in Pediatric Demyelinating Leukodystrophies and Therapeutic Opportunity

Cells
Leukodystrophies represent a heterogeneous group of disorders characterized by specific genetic mutations, metabolic abnormalities, and degeneration of white matter in the central nervous system.
Dar-Shong Lin
exaly   +3 more sources

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials

Neurotherapeutics
Leukodystrophies are progressive single gene disorders affecting the white matter of the brain. Several gene therapy trials are in progress to address the urgent unmet need for this patient population.
Jasna Metovic, Yedda Li, Yi Gong, Florian Eichler   +3 more
exaly   +3 more sources

Leucodystrophies at children

Journal of Education, Health and Sport, 2023
Introduction   Leukodystrophies involve a diverse group of rare hereditary disorders mostly affecting the white matter of the central nervous system, which straddleses nerves and glial cells.
Wiktoria Sielwanowska, Bartłomiej Syzdoł, Anna Rzewuska, Monika Żybowska, Magdalena Chrościńska-Krawczyk   +4 more
doaj   +1 more source

Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing

Scientific Reports, 2023
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disorder caused by the mutations in the DARS2 gene, which encodes the mitochondrial aspartyl-tRNA synthetase.
S. Guang, B. M. O’Brien, A. S. Fine, M. Ying, A. Fatemi, C. L. Nemeth   +5 more
doaj   +1 more source

Quantitative MRI in leukodystrophies

NeuroImage: Clinical, 2023
Leukodystrophies constitute a large and heterogeneous group of genetic diseases primarily affecting the white matter of the central nervous system. Different disorders target different white matter structural components.
Menno D. Stellingwerff, Petra J.W. Pouwels, Stefan D. Roosendaal, Frederik Barkhof, Marjo S. van der Knaap   +4 more
doaj   +1 more source