Flattened facial colliculus on magnetic resonance imaging in Machado-Joseph disease.
Atrophy of the pontine tegmentum and facial colliculus is a characteristic pathological feature of Machado-Joseph disease. We assessed whether this finding can be detected by conventional brain magnetic resonance imaging. A total of 17 patients with genetically confirmed Machado-Joseph disease, 15 disease controls (spinocerebellar ataxia type 6 and dentatorubral-pallidoluysian atrophy), and 17 normal subjects were examined using a 1.5-Tesla magnetic resonance imaging scanner. The widths of the facial colliculus, pontine tegmentum, and pontine base and the area of the fourth ventricle were measured on axial T2-weighted imaging. Pathological examination was performed in 9 Machado-Joseph disease patients. In addition, visual inspection of the facial colliculus was evaluated by receiver operating characteristic analysis. The width of the facial colliculus was significantly smaller in Machado-Joseph disease patients (0.37 ± 0.16 mm; mean ± standard deviation) than in normal subjects (0.73 ± 0.30 mm; P < .01), whereas the width of the pontine tegmentum was smaller in both Machado-Joseph disease (4.85 ± 0.58 mm) and dentatorubral-pallidoluysian atrophy (4.72 ± 0.59) patients than in normal subjects (6.35 ± 0.74 mm; P < .01). Visual evaluation of the facial colliculus showed sufficient area under the receiver operating characteristic curves to differentiate Machado-Joseph disease from dentatorubral-pallidoluysian atrophy (0.78) and spinocerebellar ataxia type 6 (0.87). Pathological evaluation showed significant atrophy of the facial colliculus in all Machado-Joseph disease patients. Atrophy of the facial colliculus is a feasible magnetic resonance imaging finding for diagnosing Machado-Joseph disease, and it is easily found as a flattening of the fourth ventricular floor.
Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Yoshitsugu
Y
Ogawa
Shoichi
S
Ito
Takahiro
T
Makino
Kazuaki
K
Kanai
Kimihito
K
Arai
Satoshi
S
Kuwabara
D000368:Aged; D000704:Analysis of Variance; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D005260:Female; D020546:Fourth Ventricle / Q000473:pathology; D006801:Humans; D007091:Image Processing, Computer-Assisted; D017827:Machado-Joseph Disease / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020191:Myoclonic Epilepsies, Progressive / Q000473:pathology; D011149:Pons / Q000473:pathology*; D012372:ROC Curve; D012091:Repetitive Sequences, Nucleic Acid; D012189:Retrospective Studies; D020754:Spinocerebellar Ataxias / Q000473:pathology; D013681:Tegmentum Mesencephali / Q000473:pathology