Characteristic features and progression of abnormalities on MRI for CARASIL.

Abstract:

OBJECTIVES:The objective of this study was to clarify the characteristic brain MRI findings for genetically diagnosed CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy). METHODS:Seven patients with CARASIL carrying HTRA1 mutations (representing 6 Japanese families) were included in this study. Eighteen brain MRIs were reviewed and evaluated with a new rating scale based on scoring for abnormal hyperintense lesions and atrophy. RESULTS:At the last follow-up MRI, all patients had hyperintense lesions on T2-weighted images of the frontal white matter, anterior temporal lobe, external capsules, and thalami. Patients with longer time from the onset of cognitive impairment had higher MRI severity score. The atrophy advanced, followed by white matter lesion progression. During the early stage, hyperintense lesions were observed in the frontal white matter, external capsule, and pons. During the late stage, the arc-shaped hyperintense lesion from the pons to the middle cerebellar peduncles, which we designated the "arc sign," became evident. The arc sign was a characteristic finding for CARASIL in the advanced stage. CONCLUSIONS:These characteristic MRI findings for CARASIL are useful for selecting patients for genetic testing. The rating scale correlates well with disease duration and might be useful for assessing disease progression.

journal_name

Neurology

journal_title

Neurology

authors

Nozaki H,Sekine Y,Fukutake T,Nishimoto Y,Shimoe Y,Shirata A,Yanagawa S,Hirayama M,Tamura M,Nishizawa M,Onodera O

doi

10.1212/WNL.0000000000001803

subject

Has Abstract

pub_date

2015-08-04 00:00:00

pages

459-63

issue

5

eissn

0028-3878

issn

1526-632X

pii

WNL.0000000000001803

journal_volume

85

pub_type

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