title: Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS.
abstract: OBJECTIVE
  Magnetic 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.
  
  
  METHODS
  Eight Japanese early-onset ataxia patients with ARSACS confirmed molecularly were investigated. We performed neurological examination, SACS gene analysis, and MRI in the patients.
  
  
  RESULTS
  Hypointensity 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.
  
  
  CONCLUSIONS
  Not 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.
authors.affiliation: Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan.
authors.forename: Haruo
authors.initials: H
authors.lastname: Shimazaki
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Takiyama
authors.forename: Junko
authors.initials: J
authors.lastname: Honda
authors.forename: Kumi
authors.initials: K
authors.lastname: Sakoe
authors.forename: Michito
authors.initials: M
authors.lastname: Namekawa
authors.forename: Jun
authors.initials: J
authors.lastname: Tsugawa
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Tsuboi
authors.forename: Chieko
authors.initials: C
authors.lastname: Suzuki
authors.forename: Masayuki
authors.initials: M
authors.lastname: Baba
authors.forename: Imaharu
authors.initials: I
authors.lastname: Nakano
mesh_terms: D000328:Adult; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D011149:Pons / Q000473:pathology*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D013681:Tegmentum Mesencephali / Q000473:pathology*