Download Lesson from the Hereditary cerebral small vessel disease All Authors

1. Abstract Title (Sentence Case; Bold; Calibri 14)
Lesson from the Hereditary cerebral small vessel disease
2. All Authors (Name, Credentials –e.g. P.E., Ph.D., Company)
Toshiki Mizuno, MD & PhD, Japan
3. Presenters (Name, Credentials, Company)
Toshiki Mizuno, MD & PhD, Japan
4. Short Description of what will be discussed during the presentation
Hereditary Cerebral Small Vessel Disease (CSVD) can be divided into three
types. autosomal dominant, autosomal recessive and X-linked. While CADASIL
is most common in autosomal dominant type, CARASIL is the only one recessive
type. CADASIL and CARASIL have a couple of similar characters, such as
juvenile onset stroke, repeated subcoritcal infarcts and cerebral white matter
lesion and vascular dementia. Otherwise, there are different characters, such as
frequent consanguineous marriage, alopecia, and spondylosis in CARASIL. In
addition, while CADASIL exists in all over the world, CARASIL is reported from
only Japan and Korea.
HTRA1, regulating TGF-beta1 signaling, is detected as a causative gene of
CARASIL. We found a mild CARASIL phenotype caused by the heterozygous
mutation of HTRA1. These cases suggested that the increase of TGF-beta1
signaling by the mutation of HTRA1 can induce the accumulation of
extracellular matrix including fibronectin and versican.
The aggregation of the extracellular domain of NOTCH3 (N3ECD) is
observed by immunostaining or electron microscopy in CADASIL. The complex
of N3ECD and TIMP3 can induce the accumulation of extracellular matrix. Both
diseases suggested that accumulation of extracellular matrix may be important
for developing CSVD.
5. What will the audience take away from your presentation? (Try to list 3-5
specific items)

We can learn the pathomechanism of cerebral small vessel disease from hereditary
disease. The audience can get a hint of new approach for treating sporadic cerebral
small vessel disease.
6. Is this abstract connected to an organized session? If yes, please
provide full session title.
7.
Biography of presenting author (about 100 words)
Toshiki Mizuno, MD, PhD is a professor in Department of Neurology, Kyoto Prefectural
University of Medicine (Kyoto, Japan). I work for the Internalmedicine as an assistant editor.
My major interests are hereditary cerebral small vessel disease, including CADASIL and
CARASIL, and vascular dementia. I reported several interesting articles about clinical and
genetic study of CADASIL and CARASIL. I’m also interested in the pathomechanism of
neurodegenerative disease and to develop a new therapy for neurodegenerative disease
using by cellular model and drosophila model.
Author Details:
Full Name: Toshiki Mizuno
Contact Number: 81-75-2515792
Country: Japan
Category: (Oral/Poster Presentation) Oral
Session Name:
Email: [email protected]
Kyoto Prefectural University of Medicine, Kyoto, Japan