Results 11 to 20 of about 11,658 (188)

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1999-2009, December 2022., 2022
Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent,
Daphne H. Schoenmakers, Shanice Beerepoot, I. Krägeloh-Mann, Saskia Elgün, B. Bender, M. S. van der Knaap, N. Wolf, S. Groeschel   +7 more
semanticscholar   +2 more sources

Metachromatic leukodystrophy: To screen or not to screen?

European Journal of Paediatric Neurology, 2023
Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal storage disorder caused by biallelic pathogenic variants in the gene encoding arylsulfatase A. Disease onset is variable (with late infantile, early and late juvenile, and adult forms) and treatment options depend on age and disease symptoms at onset.
An I. Jonckheere, Sandra D.K. Kingma, François Eyskens, Victoria Bordon, Anna C. Jansen   +4 more
openaire   +4 more sources

A systematic review on the birth prevalence of metachromatic leukodystrophy. [PDF]

Orphanet J Rare Dis
Background Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene ( ARSA ) variants.
Chang SC, Bergamasco A, Bonnin M, Bisonó TA, Moride Y.   +4 more
europepmc   +2 more sources

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   +2 more sources

Molecular Basis of Metachromatic Leukodystrophies

Pediatric Neurology Briefs, 1991
Arylsulfatase A alleles were analyzed in 68 patients with metachromatic leukodystrophy in the Department of Biochemistry II, Georg-August-Universitat Gottingen, Gosslerstr, Gottingen, Germany.
J Gordon Millichap
doaj   +3 more sources

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas. [PDF]

Med Sci (Basel)
Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis.
Thakkar RN, Patel D, Kioutchoukova IP, Al-Bahou R, Reddy P, Foster DT, Lucke-Wold B.   +6 more
europepmc   +2 more sources

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   +2 more sources

PET Beta-Amyloid Tracer Uptake in Leukoencephalopathies: Comparing Metachromatic Leukodystrophy and CADASIL. [PDF]

Eur J Neurol
European Journal of Neurology, Volume 32, Issue 4, April 2025.
Benzoni C, Moscatelli M, Bersano A, Del Sole A, Salsano E.   +4 more
europepmc   +2 more sources

Atidarsagene autotemcel for metachromatic leukodystrophy. [PDF]

J Manag Care Spec Pharm
Fahim SM, Lin G, Suh K, Carlson JJ, Richardson M, Herce-Hagiwara B, Dickerson R, Pearson SD, Rind DM, Agboola F.   +9 more
europepmc   +2 more sources

Typical and atypical MRI patterns of rare brain disorders: The challenge of low numbers. [PDF]

Dev Med Child Neurol
Developmental Medicine &Child Neurology, Volume 67, Issue 2, Page 143-144, February 2025.
Wolf NI, Engelen M, van der Knaap MS.
europepmc   +2 more sources