Results 41 to 50 of about 7,353 (158)

Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

Frontiers in Neurology, 2021
Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive
Lulu Xu, Meixiang Zhong, Yajuan Wang, Zhihong Wang, Jie Song, Jing Zhao, Hongyun Yu, Zhencui Yang, Wenjing Yan, Xueping Zheng   +9 more
doaj   +1 more source

Defining and Measuring Developmental Regression During Childhood: A Scoping Review

Autism Research, Volume 19, Issue 9, September 2026.
ABSTRACT Developmental regression during childhood is inconsistently defined and measured, resulting in delayed diagnostic discovery and intervention. This study aimed to examine published definitions and measures for developmental regression. A comprehensive search strategy was applied to Medline, Embase, Cochrane, and PsycINFO databases.
Kirsten Furley, Jenny Fairthorne, Vishnu Priya Mohanakumar Sindhu, Katrina Williams, Amanda Brignell   +4 more
wiley   +1 more source

Metachromatic leukodystrophy: A case report

Bangabandhu Sheikh Mujib Medical University Journal, 2016
Metachromatic leuk:odystrophy (MLD) is a rare neurometabolic disease caused by the deficiency of the enzyme arylsulfa­tase A .Deficiency of this enzyme results in intralysosomal storage ofsphingolipid , cerebroside 3-sulfates (sulfatides), which are ...
Gopen Kumar Kundu, Shaheen Akhter, M. Mizanur Rahman   +2 more
doaj   +1 more source

Mammalian Expression and Mass Spectrometric Characterization of Highly Active Human Arylsulfatase A

Biotechnology Journal, Volume 21, Issue 9, September 2026.
Graphical Abstract and Lay Summary A method for producing active human aryl sulfatase A by transient transfection of HEK293 cells. Accessory plasmids are included to enhance active site conversion and assist with expression/export. ABSTRACT The lysosomal enzyme Arylsulfatase A (ARSA) plays a critical role in hydrolyzing sulfatides from within cells ...
T. Pal, M. Dabarera, A. Dutta, G. Smolenski, B. D. Dickson, A. Williamson, W. Kelton   +6 more
wiley   +1 more source

Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study

Molecular Genetics and Metabolism Reports
Metachromatic leukodystrophy is a rare autosomal recessive disease. There are three forms of this disease, all of which result in cognitive and motor dysfunctions.
Yuta Koto, Wakana Yamashita, Norio Sakai
doaj   +1 more source

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

Orphanet Journal of Rare Diseases, 2022
Background Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder. Patients suffer from relentless neurological deterioration leading to premature death.
Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schöls, Nicole I. Wolf   +18 more
doaj   +1 more source

Microglia and neuroinflammation: An in‐depth analysis from functional diversity to disease mechanisms

Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
1. Microglial functions arise from dynamic, context‐dependent programs rather than fixed M1/M2 phenotypes. 2. Inflammatory, interferon‐responsive, phagocytic/lipid‐metabolic and repair‐associated programs coexist across disease stages and brain regions. 3.
Jie Chen, Wangzheqi Zhang, Lizhou Song, Yan Liao, Haoling Zhang, Yiyang Xia, Derong Cui   +6 more
wiley   +1 more source

MAPK dysregulation in the brain pathology of mucopolysaccharidosis IIIB disease [PDF]

, 2010
The accumulation of heparan sulfate (HS) in lysosomes is the primary consequence of the enzyme defect (α-N-acetylglucosaminidase) in Mucopolysaccharidosis type IIIB.
Cecere, Francesca
core   +1 more source

Multiple Sulfatase Deficiency

Pediatric Neurology Briefs, 1988
A 9-year-old girl with a phenotype similar to a mucopolysaccharidosis (MPS) and a clinical history characteristic of late infantile metachromatic leukodystrophy (MLD) is reported from the Department of Neurology, National Defense Medical Center, Taipei ...
J Gordon Millichap
doaj   +1 more source

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

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1236-1248, June 2026.
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