Abstract Details

Title MRI Features of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) S52 - (-)

Poster/Presentation
Number 006

Objective

Background CARASIL is characterized by early adult-onset dementia with extended white matter lesions, alopecia and spondylosis deformans. The causative gene for CARASIL has been identified as high temperature requirement serine peptidase A1 gene (HTRA1). The MRI features in CARASIL patients with HTRA1 mutation have not been summarized.

Design/Methods We reviewed MRI of 7 symptomatic CARASIL patients with HTRA1 mutation. Three types of missense mutations and two types of nonsense mutations are included in this study. Longitudinal MRI studies were performed on 5 individuals. The findings on T1-, T2-weighted, fluid-attenuated inversion recovery images (FLAIR) were summarized. We established scoring system (0 - 55 points) for MRI severity and evaluated each scan by this system.

Results All the patients presented confluent hyperintensity from the deep to juxtacortical white matter on T2-weighted image including the anterior temporal lobe. Linear hyperintensity in external capsule was observed in all. On T2-weighted images, hyperintensity was observed in the bilateral cerebral peduncles in six (86%) and arc-shaped lesions extending from the pons to the middle cerebellar peduncles in five patients (71%). Although diffuse cortical atrophy was observed, central and brainstem atrophy was more marked. The mean total scores at initial MRI scan of each case were 26.6 points (ranging from 12 to 37). We found neither difference on MRI severity score between individuals with missense and nonsense mutations nor correlation between the disease duration and MRI severity score.

Conclusions Mostly, MRI findings in CARASIL resemble those in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), while the bilateral hyperintensity on T2-weighted image in the cerebral peduncles and from the pons to the middle cerebellar peduncles is unique in CARASIL.

Authors/Disclosures
Hiroaki Nozaki, MD, PhD (Niigata City General Hospital) PRESENTER	No disclosure on file
Kailash P. Bhatia, MD, FAAN (UCL)	Dr. Bhatia has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ipsen. Dr. Bhatia has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for MDS . Dr. Bhatia has received publishing royalties from a publication relating to health care.
	No disclosure on file
Toshio Fukutake, MD, PhD (Kameda Medical Center)	No disclosure on file
Yoshinori Nishimoto	Yoshinori Nishimoto has received research support from Japan Society for the Promotion of Science.
	No disclosure on file
Amy P. Perrin Ross, RN, MSN, CNRN (Loyola University Medical Center)	Ms. Perrin Ross has received personal compensation in the range of $0-$499 for serving as a Consultant for Horizon. Ms. Perrin Ross has received personal compensation in the range of $0-$499 for serving as a Consultant for EMD Serono. Ms. Perrin Ross has received personal compensation in the range of $0-$499 for serving as a Consultant for Alexion. Ms. Perrin Ross has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Ms. Perrin Ross has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Mikio Hirayama, MD (Kasugai General Health Care Center)	No disclosure on file
	No disclosure on file
Imaharu Nakano, MD (Jichi Medical University)	No disclosure on file
Norihiro Suzuki	No disclosure on file
Masatoyo Nishizawa, MD (Niigata University of Health and Welfare)	No disclosure on file
Osamu Onodera, MD	Dr. Onodera has nothing to disclose.

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