D313Y mutation in the differential diagnosis of white matter lesions: Experiences from a multiple sclerosis outpatient clinic

2016 ◽  
Vol 22 (11) ◽  
pp. 1502-1505 ◽  
Author(s):  
Jana Becker ◽  
Arndt Rolfs ◽  
Nesrin Karabul ◽  
Peter Berlit ◽  
Markus Kraemer
Keyword(s):  
Multiple Sclerosis ◽  
White Matter ◽  
Neurological Disorders ◽  
Lysosomal Storage Disorder ◽  
White Matter Lesions ◽  
Clinical Impact ◽  
Lysosomal Storage ◽  
Younger Patients ◽  
Neural Damage ◽  
The Central Nervous System

White matter lesions (WML) in younger patients might be due to a variety of neurological disorders. Fabry disease (FD), an x-linked inherited lysosomal storage disorder, happens to be misdiagnosed as multiple sclerosis (MS). In two middle-aged female patients, presenting bilateral WML, diagnosis of MS turned out to be doubtful. Human genetic analysis presented the Fabry mutation D313Y, in which clinical impact is still unclear. Disease manifestations outside the central nervous system were not detected. Our findings support the suspicion that Fabry mutation D313Y may be involved in neural damage resulting in WML.

Comparison of myelin water fraction values in periventricular white matter lesions between multiple sclerosis and neuromyelitis optica spectrum disorder

2016 ◽  
Vol 22 (12) ◽  
pp. 1616-1620 ◽  
Author(s):  
In Hye Jeong ◽  
Joon Yul Choi ◽  
Su-Hyun Kim ◽  
Jae-Won Hyun ◽  
AeRan Joung ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
White Matter ◽  
Neuromyelitis Optica ◽  
White Matter Lesions ◽  
Spectrum Disorder ◽  
Periventricular White Matter ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Water Fraction ◽  
Myelin Water Fraction ◽  
The Central Nervous System

Multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) are inflammatory autoimmune diseases of the central nervous system. We hypothesized that the degree of demyelination within lesions in MS and NMOSD would differ as the pathophysiology of the two diseases do. We used myelin water imaging to compare the myelin water fraction (MWF) in 106 periventricular white matter (PVWM) lesions in 27 MS patients and 51 PVWM lesions in 20 NMOSD patients. The MWF was significantly reduced in the MS compared with the NMOSD lesions, suggesting that myelin loss was more severe in MS than in NMOSD.

scholarly journals MS Atlas - A molecular map of brain lesion stages in progressive multiple sclerosis

2019 ◽  
Author(s):  
Tobias Frisch ◽  
Maria L. Elkjaer ◽  
Richard Reynolds ◽  
Tanja Maria Michel ◽  
Tim Kacprowski ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
White Matter ◽  
Drug Targets ◽  
De Novo ◽  
Neurodegenerative Disorder ◽  
Brain Lesion ◽  
White Matter Lesions ◽  
Progressive Multiple Sclerosis ◽  
Brain White Matter ◽  
The Central Nervous System

AbstractMultiple sclerosis (MS) is a chronic inflammatory neurodegenerative disorder of the central nervous system with an untreatable late progressive phase in a high percentage of patients. Molecular maps of different stages of brain lesion evolution in patients with progressive MS (PMS) are missing but critical for understanding disease development and to identify novel targets to halt progression. We introduce the first MS brain lesion atlas (msatlas.dk), developed to address the current challenges of understanding mechanisms driving the fate of PMS on lesion basis. The MS Atlas gives means for testing research hypotheses, validating candidate biomarkers and drug targets. The MS Atlas data base comprises comprehensive high-quality transcriptomic profiles of 73 brain white matter lesions at different stages of lesion evolution from 10 PMS patients and 25 control white matter samples from five patients with non-neurological disease. The MS Atlas was assembled from next generation RNA sequencing of post mortem samples using strict, conservative preprocessing as well as advanced statistical data analysis. It comes with a user-friendly web interface, which allows for querying and interactively analyzing the PMS lesion evolution. It fosters bioinformatics methods for de novo network enrichment to extract mechanistic markers for specific lesion types and pathway-based lesion type comparison. We describe examples of how the MS Atlas can be used to extract systems medicine signatures. We also demonstrate how its interface can interactively condense and visualize the atlas’ content. This compendium of mechanistic PMS white matter lesion profiles is an invaluable resource to fuel future multiple sclerosis research and a new basis for treatment development.

Author response for "White matter lesions in multiple sclerosis are enriched for CD20 dim CD8 + tissue‐resident memory T cells"

2020 ◽  
Author(s):  
Cheng‐Chih Hsiao ◽  
Nina L. Fransen ◽  
Aletta M.R. den Bosch ◽  
Kim I.M. Brandwijk ◽  
Inge Huitinga ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
T Cells ◽  
White Matter ◽  
Memory T Cells ◽  
White Matter Lesions ◽  
Author Response ◽  
Resident Memory T Cells

scholarly journals Phenotypic and functional characterization of T cells in white matter lesions of multiple sclerosis patients

2017 ◽  
Vol 134 (3) ◽  
pp. 383-401 ◽  
Author(s):  
Gijsbert P. van Nierop ◽  
Marvin M. van Luijn ◽  
Samira S. Michels ◽  
Marie-Jose Melief ◽  
Malou Janssen ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
T Cells ◽  
White Matter ◽  
Functional Characterization ◽  
White Matter Lesions ◽  
Multiple Sclerosis Patients

scholarly journals Blood-brain barrier breakdown in non-enhancing multiple sclerosis lesions detected by 7-Tesla MP2RAGE ΔT1 mapping

PLoS ONE ◽  
2021 ◽  
Vol 16 (4) ◽  
pp. e0249973
Author(s):  
Seongjin Choi ◽  
Margaret Spini ◽  
Jun Hua ◽  
Daniel M. Harrison
Keyword(s):  
Multiple Sclerosis ◽  
Relaxation Time ◽  
White Matter ◽  
Blood Brain Barrier ◽  
White Matter Lesions ◽  
Brain Barrier ◽  
7 Tesla ◽  
T1 Relaxation Time ◽  
T1 Relaxation ◽  
Blood Brain

Although the blood-brain barrier (BBB) is altered in most multiple sclerosis (MS) lesions, gadolinium enhancement is seen only in acute lesions. In this study, we aimed to investigate gadolinium-induced changes in T1 relaxation time in MS lesions on 7-tesla (7T) MRI as a means to quantify BBB breakdown in non-enhancing MS lesions. Forty-seven participants with MS underwent 7T MRI of the brain with a magnitude-prepared rapid acquisition of 2 gradient echoes (MP2RAGE) sequence before and after contrast. Subtraction of pre- and post-contrast T1 maps was used to measure T1 relaxation time change (ΔT1) from gadolinium. ΔT1 values were interrogated in enhancing white matter lesions (ELs), non-enhancing white matter lesions (NELs), and normal appearing white matter (NAWM) and metrics were compared to clinical data. ΔT1 was measurable in NELs (median: -0.139 (-0.304, 0.174) seconds; p < 0.001) and was negligible in NAWM (median: -0.001 (-0.036, 0.155) seconds; p = 0.516). Median ΔT1 in NELs correlated with disability as measured by Expanded Disability Status Scale (EDSS) (rho = -0.331, p = 0.026). Multiple measures of NEL ΔT1 variability also correlated with EDSS. NEL ΔT1 values were greater and more variable in patients with progressive forms of MS and greater in those not on MS treatment. Measurement of the changes in T1 relaxation time caused by contrast on 7T MP2RAGE reveals clinically relevant evidence of BBB breakdown in NELs in MS. This data suggests that NEL ΔT1 should be evaluated further as a biomarker for disease severity and treatment effect in MS.

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