Results 1 to 10 of about 21,243 (259)

Pathology of the neurovascular unit in leukodystrophies [PDF]

Acta Neuropathologica Communications, 2021
The blood–brain barrier is a dynamic endothelial cell barrier in the brain microvasculature that separates the blood from the brain parenchyma. Specialized brain endothelial cells, astrocytes, neurons, microglia and pericytes together compose the ...
Parand Zarekiani, Marjolein Breur, Nicole I. Wolf, Helga E. de Vries, Marjo S. van der Knaap, Marianna Bugiani   +5 more
doaj   +2 more sources

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series [PDF]

, 2015
Background: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a hereditary, adult onset leukodystrophy which is characterised by the presence of axonal loss, axonal spheroids and variably present pigmented macrophages on ...
Bajaj, Nin, Brandner, Sebastian, Chataway, Jeremy, Costello, Daniel J., Cronin, Simon, Dean, Andrew, Fox, Nick, Houlden, Henry, Jaunmuktane, Zane, Lynch, David S., McGuigan, Chris, McNicholas, Nuala, Milonas, Ionnis, Murphy, Elaine, Phadke, Rahul, Rossor, Martin, Sheerin, Una-Marie   +16 more
core   +4 more sources

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report [PDF]

JIMD Reports
Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical
Jeremy Clark, Joel Smith, Yoke Leong, Virginia Cronin, Ingrid Winship, Gayle Ross, Timothy Fazio   +6 more
doaj   +2 more sources

Overview of genetic variants in a cohort of Iranian patients with leukodystrophy [PDF]

Scientific Reports
Leukodystrophies are a number of rare genetic disorders that influence the white matter of the brain. The current study aimed to identify the underlying genetic cause of leukodystrophy in 14 Iranian cases, mainly presented by hypomyelinating ...
Mohadeseh Fathi, Sheyda Khalilian, Mohammad Miryounesi, Soudeh Ghafouri-Fard   +3 more
doaj   +2 more sources

Diagnosing and Managing Pelizaeus‐Merzbacher Disease: A Pediatric Struggle [PDF]

Clinical Case Reports
Prompt diagnosis of rare genetic conditions like Pelizaeus‐Merzbacher Disease enables timely care. Coordinated, multidisciplinary support and proactive prevention, particularly of issues like aspiration pneumonia, are vital to enhancing quality of life ...
Sajjad Ahmed Khan, Naphibanroi Lamar, Ishan Shrestha, Sagar Bhagat   +3 more
doaj   +2 more sources

Self‐reported quality of life in symptomatic and asymptomatic women with X‐linked adrenoleukodystrophy

Brain and Behavior, 2023
Background Up to 80% of women with X‐linked adrenoleukodystrophy (X‐ALD) develop symptoms of myelopathy and peripheral neuropathy during their lifetime. The study's objective was to compare symptomatic versus asymptomatic women with X‐ALD regarding their
Lisa Schäfer, Hannes Roicke, Christa‐Caroline Bergner, Wolfgang Köhler   +3 more
doaj   +1 more source

Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1

Annals of Clinical and Translational Neurology, 2022
Objective Vanishing white matter (VWM) is a leukodystrophy, characterized by stress‐sensitive neurological deterioration and premature death. It is currently without curative treatment. It is caused by bi‐allelic pathogenic variants in the genes encoding
Diede Witkamp, Ellen Oudejans, Gino V. Hu‐A‐Ng, Leoni Hoogterp, Aleksandra M. Krzywańska, Milo Žnidaršič, Kevin Marinus, Christina F. deVeij Mestdagh, Imke Bartelink, Marianna Bugiani, Marjo S. van derKnaap, Truus E. M. Abbink   +11 more
doaj   +1 more source

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy

Annals of Clinical and Translational Neurology, 2023
Objective Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter.
Murtadha Al‐Saady, Shanice Beerepoot, Bonnie C. Plug, Marjolein Breur, Hristina Galabova, Petra J. W. Pouwels, Jaap‐Jan Boelens, Caroline Lindemans, Peter M. vanHasselt, Ulrich Matzner, Adeline Vanderver, Marianna Bugiani, Marjo S. van derKnaap, Nicole I. Wolf   +13 more
doaj   +1 more source

Case report: ‘AARS2 leukodystrophy’

Molecular Genetics and Metabolism Reports, 2021
Background: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults.
Tobias Melton Axelsen, Tzvetelina Lubenova Vammen, Mads Bak, Nelsan Pourhadi, Christian Midtgaard Stenør, Sabine Grønborg   +5 more
doaj   +1 more source

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy

Frontiers in Physiology, 2020
BackgroundMyelopathy is the core clinical manifestation of adrenoleukodystrophy (ALD), which is the most common peroxisomal disorder. Development of therapies requires sensitive and clinically relevant outcome measures. Together with spastic paraparesis,
Wouter J. C. van Ballegoij, Wouter J. C. van Ballegoij, Stephanie I. W. van de Stadt, Irene C. Huffnagel, Stephan Kemp, Stephan Kemp, Marjo S. van der Knaap, Marjo S. van der Knaap, Marc Engelen   +8 more
doaj   +1 more source