Results 21 to 30 of about 13,979 (223)
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
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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
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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
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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
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BMC Pediatrics, 2019 Background POLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to late childhood, progressive motor decline that manifests as spasticity, ataxia, tremor, and ...
Shuiyan Wu +7 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
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, 2014 How to Cite This Article: Taghdiri MM. Adreno Leukodystrophy. Iran J Child Neurol.
TAGHDIRI, Mohammad Mahdi
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TSEN54 missense variant in Standard Schnauzers with leukodystrophy. [PDF]
, 2019 We report a hereditary leukodystrophy in Standard Schnauzer puppies. Clinical signs occurred shortly after birth or started at an age of under 4 weeks and included apathy, dysphoric vocalization, hypermetric ataxia, intension tremor, head tilt, circling,
Kaisa Kyöstilä +35 more
core +3 more sources
Frontiers in Cellular Neuroscience, 2022 Hematopoietic stem cells have been investigated and applied for the treatment of certain neurological disorders for a long time. Currently, their therapeutic potential is harnessed in autologous and allogeneic hematopoietic stem cell transplantation ...
Pedro de Vasconcelos +2 more
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