Results 21 to 30 of about 21,243 (259)

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

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, Enrico Bertini, Maria Cristina Digilio, Adele D’Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita   +7 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, Ashley M. Fields, Meng Meng Fu   +2 more
doaj   +1 more source

Bone marrow transplantation alters the tremor phenotype in the murine model of globoid-cell leukodystrophy [PDF]

, 2012
Tremor is a prominent phenotype of the twitcher mouse, an authentic genetic model of Globoid-Cell Leukodystrophy (GLD, Krabbe’s disease). In the current study, the tremor was quantified using a force-plate actometer designed to accommodate low-weight ...
Dearborn, Joshua T, Farber, Nuri B, Fowler, Stephen C, Reddy, Adarsh S, Sands, Mark S, Wozniak, David F   +5 more
core   +4 more sources

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

CNV and nervous system diseases - what's new? [PDF]

, 2008
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core   +3 more sources

TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders [PDF]

, 2008
Aicardi-Goutieres syndrome (AGS) is an unusual condition that clinically mimics a congenital viral infection. Several genes have recently been implicated in the aetiology of this disorder. One of these genes encodes the DNA exonuclease TREX1. Recent work
Aicardi, Akira, Alderton, Alderton, Bartek, Bartkova, Brennan, Brucet, Chen, Chowdhury, Crow, Crow, de Silva, DiTullio, Driscoll, Gasser, Griffith, Griffiths, Höss, Jazayeri, Kawai, Lee-Kirsch, Lee-Kirsch, Lieberman, Lieberman, Lindahl, Lindahl, Liu, Liu, Liu, Mark O’Driscoll, Martinvalet, Mazur, Mazur, Morita, Napirei, O’Driscoll, O’Driscoll, Qiu, Raulet, Rhodes, Rice, Richards, Shevelev, Stiff, Stiff, Takaoka, Tran, Tsukumo, Vyse, Walport, Yang, Yasutomo, Zou, Zou   +54 more
core   +1 more source

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report

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, Zhenjiang Bai, Xingqiang Dong, Daoping Yang, Hongmei Chen, Jun Hua, Libing Zhou, Haitao Lv   +7 more
doaj   +1 more source

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

Frontiers in Pediatrics, 2021
Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common.
Majid Alfadhel, Majid Alfadhel, Majid Alfadhel, Mohammed Almuqbil, Mohammed Almuqbil, Fuad Al Mutairi, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Waleed Altuwaijri, Ahmed Al-Rumayyan, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Naif A. M. Almontashiri, Amal Alhashem, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Muhammad Talal Alrifai, Ahmed Alfares, Ahmed Alfares, Brahim Tabarki   +42 more
doaj   +1 more source

MicroRNA-23a promotes myelination in the central nervous system. [PDF]

, 2013
Demyelinating disorders including leukodystrophies are devastating conditions that are still in need of better understanding, and both oligodendrocyte differentiation and myelin synthesis pathways are potential avenues for developing treatment ...
Fu, Ying-Hui, Heng, Mary Y, Huang, Yong, Lin, Shu-Ting, Ptácek, Louis J, Zhang, Luoying   +5 more
core   +2 more sources