scholarly journals Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology

2020 ◽  
Vol 27 (6) ◽  
pp. 909-927 ◽  
Author(s):  
M. Mancuso ◽  
M. Arnold ◽  
A. Bersano ◽  
A. Burlina ◽  
H. Chabriat ◽  
...  
Keyword(s):  
Small Vessel ◽  
European Academy ◽  
Consensus Recommendations ◽  
Diagnosis And Therapy ◽  
Cerebral Small Vessel Diseases

scholarly journals A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Kohei Muto ◽  
Ryosuke Miyamoto ◽  
Yuka Terasawa ◽  
Yoshimitsu Shimatani ◽  
Keijiro Hara ◽  
...  
Keyword(s):  
Cerebral Hemorrhage ◽  
Small Vessel ◽  
Japanese Family ◽  
Recurrent Epistaxis ◽  
Phenotypic Variations ◽  
Cerebral Small Vessel Diseases

AbstractCOL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. Accumulating data have shown broad phenotypic variations, and extracerebral hemorrhages have been linked to these disorders. Moreover, the coexistence of neural tumors has been described. Here, we report a Japanese family with a novel COL4A1 variant, including a patient with recurrent epistaxis and glioblastoma.

scholarly journals Cerebral Small Vessel Disease

2020 ◽  
Vol 21 (24) ◽  
pp. 9729
Author(s):  
Jakub Litak ◽  
Marek Mazurek ◽  
Bartłomiej Kulesza ◽  
Paweł Szmygin ◽  
Joanna Litak ◽  
...  
Keyword(s):  
Small Vessel Disease ◽  
Current Knowledge ◽  
Cerebral Small Vessel Disease ◽  
Cerebral Vessels ◽  
Small Vessel ◽  
Epithelial Layer ◽  
Small Arteries ◽  
Vessel Disease ◽  
The Impact ◽  
Cerebral Small Vessel Diseases

Cerebral small vessel disease (CSVD) represents a cluster of various vascular disorders with different pathological backgrounds. The advanced vasculature net of cerebral vessels, including small arteries, capillaries, arterioles and venules, is usually affected. Processes of oxidation underlie the pathology of CSVD, promoting the degenerative status of the epithelial layer. There are several classifications of cerebral small vessel diseases; some of them include diseases such as Binswanger’s disease, leukoaraiosis, cerebral microbleeds (CMBs) and lacunar strokes. This paper presents the characteristics of CSVD and the impact of the current knowledge of this topic on the diagnosis and treatment of patients.

Prevalence, risk factors and consequences of cerebral small vessel diseases: data from three Asian countries

2017 ◽  
Vol 88 (8) ◽  
pp. 669-674 ◽  
Author(s):  
Saima Hilal ◽  
Vincent Mok ◽  
Young Chul Youn ◽  
Adrian Wong ◽  
Mohammad Kamran Ikram ◽  
...  
Keyword(s):  
Risk Factors ◽  
Small Vessel ◽  
Asian Countries ◽  
Cerebral Small Vessel Diseases

Brain MRI in Monogenic Cerebral Small Vessel Diseases: A Practical Handbook

2021 ◽  
Vol 21 ◽  
Author(s):  
Leonardo Ulivi ◽  
Mirco Cosottini ◽  
Gianmichele Migaleddu ◽  
Giovanni Orlandi ◽  
Nicola Giannini ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Small Vessel Disease ◽  
Brain Mri ◽  
Cerebral Small Vessel Disease ◽  
Small Vessel ◽  
Next Generation ◽  
Vessel Disease ◽  
Generation Sequencing ◽  
Cerebral Small Vessel Diseases

: Monogenic cerebral small vessel diseases are a topic of growing interest, as several genes responsible have been recently described and new sequencing techniques such as Next generation sequencing are available. Brain imaging is a key exam in these diseases. First, since it is often the first exam performed, an MRI is key in selecting patients for genetic testing and for interpreting Next generation sequencing reports. In addition, neuroimaging can be helpful in describing the underlying pathological mechanisms involved in cerebral small vessel disease. With this review, we aim to provide Neurologists and Stroke physicians with an up-to date overview of the current neuroimaging knowledge on monogenic small vessel diseases.

scholarly journals Brain atrophy in cerebral small vessel diseases: Extent, consequences, technical limitations and perspectives: The HARNESS initiative

2019 ◽  
Vol 40 (2) ◽  
pp. 231-245 ◽  
Author(s):  
François De Guio ◽  
Marco Duering ◽  
Franz Fazekas ◽  
Frank-Erik De Leeuw ◽  
Steven M Greenberg ◽  
...  
Keyword(s):  
Brain Atrophy ◽  
Small Vessel ◽  
Technical Aspects ◽  
Cognitive Consequences ◽  
Cognitive Alterations ◽  
Cerebral Small Vessel Diseases

Brain atrophy is increasingly evaluated in cerebral small vessel diseases. We aim at systematically reviewing the available data regarding its extent, correlates and cognitive consequences. Given that in this context, brain atrophy measures might be biased, the first part of the review focuses on technical aspects. Thereafter, data from the literature are analyzed in light of these potential limitations, to better understand the relationships between brain atrophy and other MRI markers of cerebral small vessel diseases. In the last part, we review the links between brain atrophy and cognitive alterations in patients with cerebral small vessel diseases.

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