Results 71 to 80 of about 818 (145)

Metachromatic Leukodystrophy

Pediatric Neurology Briefs, 1990
A ten year old girl with metachromatic leukodystrophy in whom neurophysiologic function and sulfatide metabolism had improved after she received a bone marrow transplant five years before is reported from the Bone Marrow Transplantation Program ...
J Gordon Millichap
doaj   +1 more source

Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children

Annals of the Child Neurology Society, Volume 4, Issue 2, Page 117-124, June 2026.
ABSTRACT Purpose X‐linked adrenoleukodystrophy (ALD) encompasses a wide range of neurological manifestations, classically described as distinct phenotypes including childhood cerebral adrenoleukodystrophy and adult‐onset adrenomyeloneuropathy (AMN).
Elle Winter, Amanda Nagy, Yedda Li, Otto Rapalino, Catherine L. Becker, Joseph Locascio, Camilo Jaimes, Florian Eichler   +7 more
wiley   +1 more source

Lamin B1 safeguards the B cell genome and shapes lymphoma outcome

HemaSphere, Volume 10, Issue 6, June 2026.
Abstract Lamin B1 is a structural component of the nuclear lamina that participates in genome organization and transcriptional control. During adaptive immune responses, B lymphocytes in germinal centers (GCs) undergo clonal expansion and programmed DNA damage at immunoglobulin loci, while simultaneously downregulating Lamin B1.
Filip Filipsky, Katarina B. Chapman, Johannes Bloehdorn, Oscar Maiques, Abigail Lee, Andrew Clear, Jun Wang, John Gribben, Michael Hausmann, Christoph Cremer, Andrejs Braun, Marta C. Sallan, Tanya Klymenko   +12 more
wiley   +1 more source

Inhibition of PLA2G15 Alleviates Palmitic Acid‐Induced Lysosomal Membrane Permeabilization in Human Nucleus Pulposus Cells During Intervertebral Disc Degeneration

JOR SPINE, Volume 9, Issue 2, June 2026.
LMP is responsible for lysosomal dysfunction in IDD. The lipid composition changes in the lysosomal membrane, mediated by PLA2G15, are the cause of LMP. The C/EBPα significantly promotes PLA2G15 expression under PA overload stress. Inhibition of PLA2G15 alleviates PA‐induced LMP by inhibiting the hydrolysis of lysosomal membrane phospholipids. ABSTRACT
Liqun Duan, Jiang Jiang, Shuangshuang Tu, Chuanfu Li, Yijun Dong, Yongjin Li, Wenzhi Zhang, Xi Chen   +7 more
wiley   +1 more source

White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification

Movement Disorders, Volume 41, Issue 6, Page 1555-1565, June 2026.
Abstract Background Primary brain calcification (PBC) is a genetic disease featuring movement disorders, cognitive impairment, and/or psychiatric symptoms. Computed tomography (CT) scan identifies brain calcification but poorly correlates with patients' clinical phenotype; the role of magnetic resonance imaging (MRI) is yet undefined.
Giovanni Librizzi, Giulia Bonato, Matilde Corazza, Irene Guerra, Francesca Pistonesi, Cinzia Bertolin, Leonardo Salviati, Angelo Antonini, Renzo Manara, Miryam Carecchio   +9 more
wiley   +1 more source

The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India

Annals of Indian Academy of Neurology, 2016
Objective: The objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India ...
Sheffali Gulati, Puneet Jain, Biswaroop Chakrabarty, Atin Kumar, Neerja Gupta, Madhulika Kabra   +5 more
doaj   +1 more source

Quantitative Comparison of Multi‐Echo Spin Echo and Multi‐Echo Gradient Echo Myelin Water Imaging in a Panel of Mbp Enhancer‐Edited Mouse Lines

Magnetic Resonance in Medicine, Volume 95, Issue 6, Page 3396-3408, June 2026.
ABSTRACT Purpose To evaluate the correspondence between myelin water fraction (MWF) estimates derived from multi‐echo spin echo (MESE) and multi‐echo gradient echo (MGRE) imaging in fixed mouse brain tissue, using a panel of myelin basic protein (Mbp) enhancer‐edited mouse lines exhibiting graded hypomyelination.
Vladimir Grouza, Yawen Shi, Sean Goldfarb, Klaudia M. Bednarz, Isabella Gomez, Marius Tuznik, Zhe Wu, Hooman Bagheri, Katherine A. Siminovitch, Alan C. Peterson, Thomas Stroh, David A. Rudko   +11 more
wiley   +1 more source

Assessment of Optimal T1/T2‐Weighted Combinations for Myelin Sensitivity: Effects of Echo Time and Exponents

Magnetic Resonance in Medicine, Volume 95, Issue 6, Page 3176-3186, June 2026.
ABSTRACT Purpose The aim of this study is to improve the traditional T1‐weighted (T1w) over T2‐weighted (T2w) ratio as a proxy for myelin by investigating the optimal T2w TE and combination of exponent‐weighted T1w and T2w images (T1wx1/T2wx2). Methods T1w and T2w Gradient And Spin Echo (GRASE) data were acquired from 14 volunteers, 6 of whom had a ...
Simone Monachino, Gerhard S. Drenthen, Lis J. M. van den Boogaard, Marcel Breeuwer, Catarina Dinis Fernandes, Oliver H. H. Gerlach, Svitlana Zinger, Jacobus F. A. Jansen   +7 more
wiley   +1 more source

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

Frontiers in Genetics
The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter.
Emma M. J. Passchier, Emma M. J. Passchier, Quinty Bisseling, Quinty Bisseling, Guy Helman, Rosalina M. L. van Spaendonk, Cas Simons, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Marjo S. van der Knaap, Rogier Min, Rogier Min   +15 more
doaj   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source