Results 61 to 70 of about 15,059 (213)

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

Treatment of adult metachromatic leukodystrophy model mice using intrathecal administration of type 9 AAV vector encoding arylsulfatase A

Scientific Reports, 2021
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by an arylsulfatase A (ARSA) deficiency and characterized by severe neurological symptoms resulting from demyelination within the central and peripheral nervous systems.
N. Miyake, K. Miyake, A. Sakai, Motoko Yamamoto, Hidenori Suzuki, T. Shimada   +5 more
semanticscholar   +1 more source

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

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

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder

Neurobiology of Disease, 2004
Metachromatic leukodystrophy (MLD) is a lysosomal lipid storage disease caused by arylsulfatase A deficiency. In MLD patients the sphingolipid sulfatide increasingly accumulates leading to progressive demyelination.
K Saravanan, N Schaeren-Wiemers, D Klein, R Sandhoff, A Schwarz, A Yaghootfam, V Gieselmann, S Franken   +7 more
doaj   +1 more source

Diagnostic issues and clinical spectrum of childhood degenerative brain diseases [PDF]

, 2014
To find out the spectrum of clinical presentation and typesof neurodegenerative disorders of childhoodin tertiary care child neurology centre of Pakistan. To find out the role of brain imaging in the diagnosis of degenerative brain disorders in children.
Ameer Khan, Ashfa, Arshad Khawaja, Muhammad, Rahman, Zia ur, Sultan, Tipu, Waheed Rathore, Ahsan   +4 more
core   +1 more source

Creating New β-Globin-Expressing Lentiviral Vectors by High-Resolution Mapping of Locus Control Region Enhancer Sequences. [PDF]

, 2020
Hematopoietic stem cell gene therapy is a promising approach for treating disorders of the hematopoietic system. Identifying combinations of cis-regulatory elements that do not impede packaging or transduction efficiency when included in lentiviral ...
Aleshe, Bamidele, Ayoub, Paul George, Brown, Devin, Hollis, Roger P, Kohn, Donald B, Kurita, Ryo, Lathrop, Lindsay, Ma, Feiyang, Morgan, Richard A, Nakamura, Yukio, Pellegrini, Matteo, Senadheera, Shantha, Tam, Curtis, Unti, Mildred J, Wong, Ryan L   +14 more
core   +1 more source

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome [PDF]

, 2015
Background: It remains unclear to what extent the brain is affected by Maroteaux-Lamy syndrome (MPS VI), a progressive lysosomal storage disorder. While enzyme replacement therapy (ERT) elicits positive effects, the drug cannot cross the blood–brain ...
Aarsen, F.K. (Femke), Brands, M.M.G. (Marion M. G.), Coebergh van den Braak, R.R.J. (Robert), Ebbink, B.J. (Johanneke), Hout, J.M.P. (Johanna) van den, Leguin, M. (Maarten), Ploeg, A.T. (Ans) van der, Plug, I. (Iris), van de Weitgraven, R.L. (Rianne L.)   +8 more
core   +1 more source