Results 51 to 60 of about 10,122 (170)

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, EarlyView.
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

The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology

Orphanet Journal of Rare Diseases
Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role is in the disease process.
Hemmo A.F. Yska, Marc Engelen, Marianna Bugiani   +2 more
doaj   +1 more source

A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY

Pakistan Armed Forces Medical Journal, 2021
Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination.
Muhammad Mohsin Sajjad, Sidra Yousaf
doaj  

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

Frontiers in Neurology, 2019
Alexander disease (AxD) is a rare, autosomal dominant neurological disorder. Three clinical subtypes are distinguished based on age at onset: infantile (0–2 years), juvenile (2–13 years), and adult (>13 years).
Andrea Ciammola, Davide Sangalli, Jenny Sassone, Jenny Sassone, Barbara Poletti, Laura Carelli, Paolo Banfi, Gabriele Pappacoda, Isabella Ceccherini, Alice Grossi, Luca Maderna, Monica Pingue, Monica Pingue, Floriano Girotti, Vincenzo Silani, Vincenzo Silani   +15 more
doaj   +1 more source

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

Magnetic Resonance in Medicine, EarlyView.
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$$ \mathrm{T}1{\mathrm{w}}^{x_1}/\mathrm{T}2{\mathrm{w}}^{x_2} $$).
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

When chronic ischemia in thalassemia mimics leukodystrophy: Case report with review of literature

CHRISMED Journal of Health and Research, 2017
We present magnetic resonance imaging (MRI) brain picture of a 10-month-old child suffering from thalassemia major. The picture had changes that mimicked leukodystrophy.
Sukriti Kumar, Manish Gutch
doaj   +1 more source

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

Brain Pathology, EarlyView.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira, Yaiza López‐Sampere, Pol Mengod‐Soler, Mario Peña‐Fonteboa, Carla Marco, Alejandro Caravaca‐Puchades, Raúl Domínguez, Juan Francisco Vázquez‐Costa, Enrique Santamaría, Joaquín Fernández‐Irigoyen, María J. Colomina, Isabel León Moreno, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Gabriel Santpere, Elia Obis, Manuel Portero‐Otín, Gerard Piñol‐Ripoll, Mónica Povedano, Pol Andrés‐Benito   +19 more
wiley   +1 more source

Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry. Method This was a mixed‐methods study consisting of a systematic literature search, a survey, and a real‐time Delphi procedure to achieve consensus on domains and ...
Larissa R. Heideman, Nicole I. Wolf, Moritz Thiel, Jolanda H. Schieving, Chris De Kruiff, Suzanne van den Bos, Eva Van Heeringen‐Broekhuizen, J. Jasper Deuring, Annemieke I. Buizer, Laura A. Van De Pol   +9 more
wiley   +1 more source

Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response

eLife, 2020
Vanishing white matter disease (VWM) is a severe leukodystrophy of the central nervous system caused by mutations in subunits of the eukaryotic initiation factor 2B complex (eIF2B).
Matthew D Keefe, Haille E Soderholm, Hung-Yu Shih, Tamara J Stevenson, Kathryn A Glaittli, D Miranda Bowles, Erika Scholl, Samuel Colby, Samer Merchant, Edward W Hsu, Joshua L Bonkowsky   +10 more
doaj   +1 more source

MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity

JIMD Reports, 2022
Adrenomyeloneuropathy (AMN), the slow progressive phenotype of adrenoleukodystrophy (ALD), has no clinical plasma biomarker for disease progression. This feasibility study aimed to determine whether metabolomics and micro‐RNA in blood plasma provide a ...
Bela Rui Turk, Laila Marie Poisson, Christina Linnea Nemeth, Jordan Goodman, Ann B. Moser, Richard Owen Jones, Ali Fatemi, Jaspreet Singh   +7 more
doaj   +1 more source