Results 11 to 20 of about 10,122 (170)
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 +13 more
doaj +1 more source
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 +11 more
doaj +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 +6 more
doaj +1 more source
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 +2 more
doaj +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 +4 more
doaj +1 more source
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 +13 more
doaj +1 more source
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum
Brain Sciences, 2023 POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders.
Vito Luigi Colona +7 more
doaj +1 more source
Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy
Annals of Clinical and Translational Neurology, 2020 Objective To explore the potential of neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) as biomarkers of spinal cord degeneration in adrenoleukodystrophy, as objective treatment‐outcome parameters are needed.
Wouter J. C. vanBallegoij +6 more
doaj +1 more source
Emerging cellular themes in leukodystrophies
Frontiers in Cell and Developmental Biology, 2022 Leukodystrophies are a broad spectrum of neurological disorders that are characterized primarily by deficiencies in myelin formation. Clinical manifestations of leukodystrophies usually appear during childhood and common symptoms include lack of motor ...
Joseph C. Nowacki +2 more
doaj +1 more source
Frontiers in Genetics, 2021 Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in GJA1, the gene encoding connexin43 gap junction protein. A novel in-frame deletion (p.Lys134del) was found in our clinic.
Irene Sargiannidou +7 more
doaj +1 more source