Results 31 to 40 of about 16,959 (263)

Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy

Frontiers in Neurology, 2021
RNA polymerase III (POLR3)-related leukodystrophy is an autosomal recessive form of leukodystrophy caused by homozygous or compound heterozygous mutations of the RNA polymerase III subunit genes, including subunit A (POLR3A).
Soma Furukawa, Soma Furukawa, Misako Kunii, Hiroshi Doi, Naohide Kondo, Naohide Kondo, Naohide Kondo, Aya Ogura, Aya Ogura, Koichi Hirabuki, Takayuki Itoh, Naomichi Matsumoto, Fumiaki Tanaka, Masahisa Katsuno, Yasuhiro Ito   +14 more
doaj   +1 more source

Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction

Annals of Clinical and Translational Neurology, 2020
In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneration.
N. Wolf, M. Breur, Bonnie C. Plug, Shanice Beerepoot, A. Westerveld, D. V. van Rappard, Sharon I. de Vries, Maarten H. P. Kole, A. Vanderver, M. S. van der Knaap, C. Lindemans, P. V. van Hasselt, J. Boelens, U. Matzner, V. Gieselmann, M. Bugiani   +15 more
semanticscholar   +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, Ashley M. Fields, Meng Meng Fu   +2 more
doaj   +1 more source

Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms

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, Violetta Christophidou-Anastasiadou, Violetta Christophidou-Anastasiadou, Andreas Hadjisavvas, George A. Tanteles, Kleopas A. Kleopa, Kleopas A. Kleopa, Kleopas A. Kleopa   +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, Stephanie I.W. van deStadt, Irene C. Huffnagel, Stephan Kemp, Eline A. J. Willemse, Charlotte E. Teunissen, Marc Engelen   +6 more
doaj   +1 more source

Hematopoietic Stem Cell Transplantation for Neurological Disorders: A Focus on Inborn Errors of Metabolism

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, João F. Lacerda, João F. Lacerda   +2 more
doaj   +1 more source

Language Outcomes in Cochlear Implanted Children with White Matter Disturbances [PDF]

Iranian Journal of Otorhinolaryngology, 2021
Introduction:  The present study reviews our experience with children with white matter disturbances and the benefits they get from rehabilitation post cochlear implantation.
Anuradha Sharma, Naresh Panda, Sanjay Munjal   +2 more
doaj   +1 more source

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Journal of Clinical Endocrinology and Metabolism, 2020
Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K.
Félixe, Pelletier, Stefanie, Perrier, K., Cayami, Amytice, Mirchi, Stephan, Saikali, T., Tran, Nicole, Ulrick, Kether, Guerrero, Emmanouil, Rampakakis, Spaendonk, Sakkubai, Naidu, D. Pohl, T. Gibson, M. Demos, C. Goizet, Ingrid Tejera-Martin, A. Potic, L. Fogel, B. Brais, M. Sylvain, G. Sébire, Marques Lourenço, L. Bonkowsky, C. Catsman-Berrevoets, S. Pinto, Sandya, Tirupathi, Petter, Strømme, Grauw, Dorota, Gieruszczak-Bialek, Ingeborg, Krägeloh-Mann, Hanna, Mierzewska, Heike, Philippi, Julia, Rankin, T. Atik, Brenda, Banwell, S., Benko, Astrid, Blaschek, A. Bley, E. Boltshauser, D. Bratkovic, K. Brožová, Icíar, Cimas, Christopher, Clough, Bernard, Corenblum, A. Dinopoulos, G. Dolan, F. Faletra, R. Fernandez, J. Fletcher, Garcia, P. Gasparini, Dolores González Morón, A. Hamati, I. Harting, C. Hertzberg, A. Hill, M. Hobson, Micheil, Innes, Marcelo, Kauffman, M., Kirwin, Gerhard, Kluger, Petra, Kolditz, Urania, Kotzaeridou, Eriskay, Liston, William, McClintock, Meriel, McEntagart, Fiona, McKenzie, Serge, Melançon, Anjum, Misbahuddin, Mohnish, Suri, I., Monton, Sebastien, Moutton, J., Murphy, Miriam, Nickel, Hüseyin, Onay, Simona, Orcesi, Ferda, Özkınay, Steffi, Patzer, Helio F. Pedro, S. Pekic, A. Pizzino, B. Plecko, V. Popović, D. Rating, M. Rioux, Espinosa, A. Ronan, R. Ostergaard, E. Rossignol, R. Sánchez-Carpintero, Anna, Schossig, Nesrin, Senbil, A., Stevens, Matthis, Synofzik, László, Sztriha, Daniel, Tibussek, Dagmar, Timmann, Davide, Tonduti   +149 more
semanticscholar   +1 more source

HDAC-6 inhibition ameliorates the early neuropathology in a mouse model of Krabbe disease

Frontiers in Molecular Neuroscience, 2023
IntroductionIn Krabbe disease (KD), mutations in β-galactosylceramidase (GALC), a lysosomal enzyme responsible for the catabolism of galactolipids, leads to the accumulation of its substrates galactocerebroside and psychosine.
Sandra O. Braz, Marlene M. Morgado, Marta I. Pereira, Ana C. Monteiro, Olga Golonzhka, Matthew Jarpe, Pedro Brites, Monica M. Sousa, Joana Nogueira-Rodrigues   +8 more
doaj   +1 more source

Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice

Annals of Neurology, 2020
Marked elevation in the brain concentration of N‐acetyl‐L‐aspartate (NAA) is a characteristic feature of Canavan disease, a vacuolar leukodystrophy resulting from deficiency of the oligodendroglial NAA‐cleaving enzyme aspartoacylase.
V. Hull, Yan Wang, Travis Burns, Sheng Zhang, S. Sternbach, J. McDonough, Fuzheng Guo, D. Pleasure   +7 more
semanticscholar   +1 more source