title: Magnetic resonance imaging findings of Machado-Joseph disease: histopathologic correlation.
abstract: OBJECTIVE
  To determine the characteristic magnetic resonance imaging (MRI) findings of early- and late-stage Machado-Joseph disease (MJD) and to examine correlation with pathologic specimens.
  
  
  METHODS
  Four patients genetically diagnosed with MJD and a familial case of MJD were all examined using MRI. Machado-Joseph disease was pathologically confirmed in one of the four genetically diagnosed patients, and the findings were compared with the MRI results.
  
  
  RESULTS
  In all three patients who had MJD for less than 8 years, MRI confirmed mild cerebellar atrophy, particularly in the vermis, and atrophic changes in the superior cerebellar peduncle. Mild pontine atrophy was observed in these three patients. Atrophic changes in the pontine tegmentum were more prominent than those of the pontine base in these patients. Two of the three patients showed mild frontal atrophy. Of the five total patients, two had the disease for over 10 years and showed progressive atrophy of the brainstem and mild frontal atrophy. These two patients also showed pallidal atrophy. One autopsied case in which the disease duration was 17 years showed a typical pathologic picture of MJD. Macroscopic findings for this patient showed marked atrophy of the pons, mild cerebellar atrophy (particularly in the vermis), marked atrophy of the superior cerebellar peduncle, severe involvement of motor nuclei, and atrophy and discoloration of the pallidum and subthalamic nuclei.
  
  
  CONCLUSIONS
  In the early stages of MJD, mild pontine atrophy, particularly in the tegmentum, and mild cerebellar atrophy are typical MRI findings. Atrophic changes in the brainstem may be progressive. Pallidal atrophy may be observed in patients with long disease duration. These findings correlated with the pathologic findings.
authors.affiliation: Department of Radiology, National Defense Medical College, Tokorozawa-City, Saitama, Japan. ayasan@me.ndmc.ac.jp
authors.forename: Aya M
authors.initials: AM
authors.lastname: Tokumaru
authors.forename: Keiko
authors.initials: K
authors.lastname: Kamakura
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Maki
authors.forename: Shigeo
authors.initials: S
authors.lastname: Murayama
authors.forename: Ikuko
authors.initials: I
authors.lastname: Sakata
authors.forename: Tatsumi
authors.initials: T
authors.lastname: Kaji
authors.forename: Shinnya
authors.initials: S
authors.lastname: Kohyama
authors.forename: Shoichi
authors.initials: S
authors.lastname: Kusano
authors.forename: Seiji
authors.initials: S
authors.lastname: Hasegawa
mesh_terms: D000328:Adult; D001284:Atrophy; D001344:Autopsy; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D018450:Disease Progression; D005260:Female; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011859:Radiography; D012720:Severity of Illness Index; D013223:Statistics as Topic; D013997:Time Factors