White matter abnormalities in tuberous sclerosis complex

1998 ◽  
Vol 39 (5) ◽  
pp. 482-486 ◽  
Author(s):  
P. D. Griffiths ◽  
P. Bolton ◽  
C Verity
Keyword(s):  
White Matter ◽  
Mr Imaging ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Clinical History ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Radial Migration ◽  
White Matter Abnormalities ◽  
Cortical Tubers

Purpose: the aim of this study was to investigate and describe the range of white matter abnormalities in children with tuberous sclerosis complex by means of MR imaging Material and Methods: A retrospective cross-sectional study was performed on the basis of MR imaging findings in 20 cases of tuberous sclerosis complex in children aged 17 years or younger Results: White matter abnormalities were present in 19/20 (95%) cases of tuberous sclerosis complex. These were most frequently (19/20 cases) found in relation to cortical tubers in the supratentorial compartment. White matter abnormalities related to tubers were found in the cerebellum in 3/20 (15%) cases. White matter abnormalities described as radial migration lines were found in relation to 5 tubers in 3 (15%) children. in 4/20 (20%) cases, white matter abnormalities were found that were not related to cortical tubers. These areas had the appearance of white matter cysts in 3 cases and infarction in the fourth. in the latter case there was a definable event in the clinical history, supporting the diagnosis of stroke Conclusion: A range of white matter abnormalities were found by MR imaging in tuberous sclerosis complex, the commonest being gliosis and hypomy-elination related to cortical tubers. Radial migration lines were seen infrequently in relation to cortical tubers and these are thought to represent heterotopic glia and neurons along the expected path of cortical migration

White matter abnormalities in tuberous sclerosis complex

1998 ◽  
Vol 39 (5) ◽  
pp. 482-486 ◽  
Author(s):  
P. D. Griffiths ◽  
P. Bolton ◽  
C. Verity
Keyword(s):  
White Matter ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
White Matter Abnormalities

scholarly journals Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers

2020 ◽  
Vol 79 (10) ◽  
pp. 1054-1064
Author(s):  
Angelika Mühlebner ◽  
Jackelien van Scheppingen ◽  
Andrew de Neef ◽  
Anika Bongaarts ◽  
Till S Zimmer ◽  
...  
Keyword(s):  
White Matter ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Basic Protein ◽  
Autism Spectrum ◽  
Multiple Organ ◽  
Small Subset ◽  
Organ Systems ◽  
Quantitative Image ◽  
Cortical Tubers

Abstract Tuberous sclerosis complex (TSC) is a monogenetic disease that arises due to mutations in either the TSC1 or TSC2 gene and affects multiple organ systems. One of the hallmark manifestations of TSC are cortical malformations referred to as cortical tubers. These tubers are frequently associated with treatment-resistant epilepsy. Some of these patients are candidates for epilepsy surgery. White matter abnormalities, such as loss of myelin and oligodendroglia, have been described in a small subset of resected tubers but mechanisms underlying this phenomenon are unclear. Herein, we analyzed a variety of neuropathologic and immunohistochemical features in gray and white matter areas of resected cortical tubers from 46 TSC patients using semi-automated quantitative image analysis. We observed divergent amounts of myelin basic protein as well as numbers of oligodendroglia in both gray and white matter when compared with matched controls. Analyses of clinical data indicated that reduced numbers of oligodendroglia were associated with lower numbers on the intelligence quotient scale and that lower amounts of myelin-associated oligodendrocyte basic protein were associated with the presence of autism-spectrum disorder. In conclusion, myelin pathology in cortical tubers extends beyond the white matter and may be linked to cognitive dysfunction in TSC patients.

Cyst-like cortical tubers in patients with tuberous sclerosis complex: MR imaging with the FLAIR sequence

2006 ◽  
Vol 36 (6) ◽  
pp. 498-501 ◽  
Author(s):  
Elzbieta Jurkiewicz ◽  
Sergiusz Jozwiak ◽  
Monika Bekiesinska-Figatowska ◽  
Iwona Pakula-Kosciesza ◽  
Jerzy Walecki
Keyword(s):  
Mr Imaging ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Flair Sequence ◽  
Cortical Tubers

Expression and cellular distribution of FGF13 in cortical tubers of the tuberous sclerosis complex

2021 ◽  
Vol 749 ◽  
pp. 135714
Author(s):  
Kefu Wu ◽  
Jiong Yue ◽  
Kaifeng Shen ◽  
Jiaojiang He ◽  
Gang Zhu ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cellular Distribution ◽  
Cortical Tubers

scholarly journals White matter integrity and cognition in Parkinson's disease: a cross-sectional study

BMJ Open ◽  
2014 ◽  
Vol 4 (1) ◽  
pp. e003976 ◽  
Author(s):  
Eirik Auning ◽  
Veslemøy Krohn Kjærvik ◽  
Per Selnes ◽  
Dag Aarsland ◽  
Astrid Haram ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
White Matter ◽  
Cross Sectional Study ◽  
White Matter Integrity ◽  
Sectional Study ◽  
Cross Sectional

Diffusion-Weighted MR Imaging in the Evaluation of Normal Appearing White Matter in Patients with Tuberous Sclerosis

2003 ◽  
Vol 16 (2) ◽  
pp. 263-266
Author(s):  
F.G. Garaci ◽  
R. Floris ◽  
G. Manenti ◽  
L.M. Fantozzi ◽  
A. Bozzao
Keyword(s):  
White Matter ◽  
Mr Imaging ◽  
Tuberous Sclerosis ◽  
Centrum Semiovale ◽  
Normal Appearing White Matter ◽  
Diffusion Weighted ◽  
Adc Values ◽  
Mr Sequences ◽  
Supratentorial White Matter

The aim of the present study was to assess the presence of changes in diffusivity in the brains of patients with tuberous sclerosis (TS) in areas free from signal alterations on conventional MR sequences. Ten patients and controls were evaluated. ROI were placed on ADC maps in the white matter (frontal, parietal and centrum semiovale) excluding areas with signal alterations on FLAIR images. ADC values of supratentorial white matter turned out to be higher than controls (P < .0001). Our data indicate that TS is more widely diffused than expected in the brains of affected patients.

scholarly journals Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex

2019 ◽  
Vol 90 ◽  
pp. 24-30 ◽  
Author(s):  
Jurriaan M. Peters ◽  
Anna Prohl ◽  
Kush Kapur ◽  
Audrey Nath ◽  
Benoit Scherrer ◽  
...  
Keyword(s):  
White Matter ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Longitudinal Effects

scholarly journals The relationship between ambulatory blood pressure variability and enlarged perivascular spaces: a cross-sectional study

BMJ Open ◽  
2017 ◽  
Vol 7 (8) ◽  
pp. e015719 ◽  
Author(s):  
Shuna Yang ◽  
Wei Qin ◽  
Lei Yang ◽  
Huimin Fan ◽  
Yue Li ◽  
...  
Keyword(s):  
Blood Pressure ◽  
White Matter ◽  
Ambulatory Blood Pressure ◽  
Blood Pressure Variability ◽  
Cross Sectional Study ◽  
Perivascular Spaces ◽  
Spearman Correlation ◽  
Sectional Study ◽  
Cross Sectional ◽  
The Relationship

ObjectivesRecent studies reported that 24-hour ambulatory blood pressure variability (ABPV) was associated with lacunar infarction and white matter hyperintensities (WMH). However, the relationship between ABPV and enlarged perivascular spaces (EPVS) has not been investigated. Thus, our study aimed to investigate whether ABPV is associated with EPVS by 24-hour ambulatory blood pressure monitoring (ABPM).DesignWe conducted this study as a cross-sectional study.SettingsThe study was based on patients who presented for physical examinations in our hospital from May 2013 to June 2016.ParticipantsPatients with both brain MRI scans and 24-hour ABPM were included and patients with acute stroke, a history of severe stroke and some other severe diseases were excluded. A total of 573 Chinese patients were prospectively enrolled in this study.Primary and secondary outcome measuresEPVS in basal ganglia (BG) and white matter (WM) were identified on MRI and classified into three categories by the severity. WMH were scored by the Fazekas scale. Coefficient of variation (CV) and SD were considered as metrics of ABPV. Spearman correlation analysis and ordinal logistic regression analysis were used to assess the relationship between ABPV and EPVS.ResultsThere were statistical differences among the subgroups stratified by the severity of EPVS in BG in the following ABPV metrics: SD and CV of systolic blood pressure (SBP), CV of diastolic blood pressure (DBP) in 24 hours, daytime and nighttime and SD of DBP in nighttime. The above ABPV metrics were positively associated with the degree of EPVS. The association was unchanged after adjusting for confounders. Spearman correlation analysis showed ABPV was not related to the degree of EPVS in the WM.ConclusionABPV was independently associated with EPVS in BG after controlling for blood pressure, but not in the WM. Pathogenesis of EPVS in BG and WM might be different.

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