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Japanese Journal of Radiology
Published in: Japanese Journal of Radiology 2/2024

Open Access 17-10-2023 | Cerebral Small Vessel Disease | Invited Review

Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage

Authors: Mikako Enokizono, Ryo Kurokawa, Akira Yagishita, Yasuhiro Nakata, Sho Koyasu, Hiroshi Nihira, Shigeko Kuwashima, Noriko Aida, Tatsuo Kono, Harushi Mori

Published in: Japanese Journal of Radiology | Issue 2/2024

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Abstract

Cerebral small vessel disease (cSVD) refers to a group of pathological processes with various etiologies affecting the small vessels of the brain. Most cases are sporadic, with age-related and hypertension-related sSVD and cerebral amyloid angiopathy being the most prevalent forms. Monogenic cSVD accounts for up to 5% of causes of stroke. Several causative genes have been identified. Sporadic cSVD has been widely studied whereas monogenic cSVD is still poorly characterized and understood. The majority of cases of both the sporadic and monogenic types, including cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), typically have their onset in adulthood. Types of cSVD with infantile and childhood onset are rare, and their diagnosis is often challenging. The present review discusses the clinical and neuroimaging findings of monogenic cSVD from the prenatal to adolescent period of development. Early diagnosis is crucial to enabling timely interventions and family counseling.
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Metadata
Title
Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage
Authors
Mikako Enokizono
Ryo Kurokawa
Akira Yagishita
Yasuhiro Nakata
Sho Koyasu
Hiroshi Nihira
Shigeko Kuwashima
Noriko Aida
Tatsuo Kono
Harushi Mori
Publication date
17-10-2023
Publisher
Springer Nature Singapore
Published in
Japanese Journal of Radiology / Issue 2/2024
Print ISSN: 1867-1071
Electronic ISSN: 1867-108X
DOI
https://doi.org/10.1007/s11604-023-01493-0

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