MAGNETIC-RESONANCE-IMAGING IN THE DIAGNOSIS OF DOMINANTLY INHERITED CEREBELLO-OLIVARY ATROPHY - A CLINICOPATHOLOGICAL STUDY

To facilitate the study of cerebellar degenerative disorders, improved clinical diagnosis is needed. Cerebello-olivary atrophy is pathologic ally distinct, but until now its diagnosis has been thought to require postmortem examination. This condition was considered as a possible d iagnosis in two patients from different families with dominantly inher ited ataxia. The affected members of each family demonstrated a stereo typed, progressive, ''pure'' cerebellar syndrome, which began with gai t ataxia followed years later by dysarthria and limb ataxia. The autop sy findings for the first patient's father revealed paleocerebellar an d olivary atrophy, characteristic of cerebello-olivary atrophy. Magnet ic resonance imaging (MRI) of the brain of both patients revealed medu llary, vermian and, to a lesser extent, cerebellar hemispheric atrophy but a normal pons. Dominantly inherited cerebello-olivary atrophy was diagnosed in both patients. Characteristic clinical and MRI features thus permit a confident clinical diagnosis of dominantly inherited cer ebello-olivary atrophy. Recognition of this entity during life should advance the classification of cerebellar degenerative disorders.