• Haruo Shimazaki, Yoshihisa Takiyama, Junko Honda, Kumi Sakoe, Michito Namekawa, Jun Tsugawa, Yoshio Tsuboi, Chieko Suzuki, Masayuki Baba, and Imaharu Nakano.
• Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan.
• J Neuroimaging. 2013 Jan 1;23(1):82-5.

Background And PurposeMagnetic resonance imaging (MRI) of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) cases in Quebec and Europe was reported to show linear hypointensities in T2-weighted and Fluid Attenuated Inversion Recovery (FLAIR) images of the pons. We attempted to clarify the characteristics of the brain MRI findings in ARSACS cases.MethodsEight Japanese early-onset ataxia patients with ARSACS confirmed molecularly were investigated. We performed neurological examination, SACS gene analysis, and MRI in the patients.ResultsHypointensity lesions in the middle cerebellar peduncles in addition to the pons were observed in T2-weighted and FLAIR images in all eight cases. Although superior cerebellar atrophy was seen in all cases, this MRI finding might not be specific for ARSACS. Upper cervical cord and medulla oblongata atrophy was not observed in 3 of the 7 patients examined.ConclusionNot only pontine but also middle cerebellar peduncle hypointensity lesions observed in T2-weighted and FLAIR images could be specific findings for ARSACS even in cases with variable clinical phenotypes.Copyright © 2012 by the American Society of Neuroimaging.

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