Characteristic features and progression of abnormalities on MRI for CARASIL

Hiroaki Nozaki, Yumi Sekine, Toshio Fukutake, Yoshinori Nishimoto, Yutaka Shimoe, Akiko Shirata, Sohei Yanagawa, Mikio Hirayama, Masato Tamura, Masatoyo Nishizawa, Osamu Onodera

Research output: Contribution to journalArticle

29 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)459-463
Number of pages5
JournalNeurology
Volume85
Issue number5
DOIs
Publication statusPublished - 2015 Aug 4

ASJC Scopus subject areas

  • Clinical Neurology

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    Nozaki, H., Sekine, Y., Fukutake, T., Nishimoto, Y., Shimoe, Y., Shirata, A., Yanagawa, S., Hirayama, M., Tamura, M., Nishizawa, M., & Onodera, O. (2015). Characteristic features and progression of abnormalities on MRI for CARASIL. Neurology, 85(5), 459-463. https://doi.org/10.1212/WNL.0000000000001803