Results 51 to 60 of about 21,243 (259)

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Anything is better than nothing’: exploring attitudes towards novel therapies in leukodystrophy clinical trials

Orphanet Journal of Rare Diseases
Background/Aim Leukodystrophies comprise a group of genetic white matter disorders that lead to progressive motor and cognitive impairment. Recent development of novel therapies has led to an increase in clinical trials for leukodystrophies.
Ella Wilson, Richard Leventer, Chloe Cunningham, Michelle G. de Silva, Jan Hodgson, Eloise Uebergang   +5 more
doaj   +1 more source

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
core   +2 more sources

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]

, 2019
BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B., Lund, Troy C., Miller, Weston P., Orchard, Paul J., Patterson, Marc C., Pollard, Laura, Renaud, Deborah L., Simmons, Katrina, Wenger, David A.   +8 more
core   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

In vivo targeting of a variant causing vanishing white matter using CRISPR/Cas9

Molecular Therapy: Methods & Clinical Development, 2022
Vanishing white matter (VWM) is a leukodystrophy caused by recessive variants in subunits of eIF2B. At present, no curative treatment is available and patients often die at young age.
Anne E.J. Hillen, Martina Hruzova, Tanja Rothgangl, Marjolein Breur, Marianna Bugiani, Marjo S. van der Knaap, Gerald Schwank, Vivi M. Heine   +7 more
doaj   +1 more source

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency [PDF]

, 2015
Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to ...
Angela eHagendorff, Arnaud V Vanlander, Barbara ePlecko, Boris eRolinski, Charlotte L Alston, Christine eMakowski, Franz A Zimmermann, Holger eProkisch, Holger eProkisch, Johannes A Mayr, Joél eSmet, Lucia eAbela, Maja eHempel, Marianne eRohrbach, Peter eFreisinger, Robert W Taylor, Rudy eVan Coster, Saikat eSantra, Sara eSeneka, Stephanie eSpranger, Steven A Hardy, Thomas eMeitinger, Thomas eMeitinger, Tobias Bernd Haack, Tobias Bernd Haack, Uwe eAhting, Wolfgang eSperl   +26 more
core   +3 more sources

Endogenous Repair in Vanishing White Matter

Annals of Neurology, EarlyView.
Objective Vanishing white matter is a leukodystrophy with remarkable regional variation in disease severity. The cerebral and cerebellar white matter chronically degenerates, while stress‐induced episodes of rapid neurological deterioration coincide with the appearance of acute focal lesions in the deep gray structures and brainstem.
Bonnie C. Plug, Jodie H.K. Man, Marjolein Breur, Erik Nutma, Menno D. Stellingwerff, Truus E.M. Abbink, Marianna Bugiani, Marjo S. van der Knaap   +7 more
wiley   +1 more source

Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency

Orphanet Journal of Rare Diseases
Background Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxycholestenoic acid
Femke C.C. Klouwer, Stefan D. Roosendaal, Carla E. M. Hollak, Mirjam Langeveld, Bwee Tien Poll-The, Arlette J. van Sorge, Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen   +8 more
doaj   +1 more source