CLINICAL AND RADIOLOGICAL FEATURES OF JUVENILE-ONSET OLIVOPONTOCEREBELLAR ATROPHY

Olivopontocerebellar atrophy (OPCA) is uncommon in childhood. We encou ntered 17 consecutive patients with clinical and radiological features of OPCA with a juvenile onset (mean onset age 8.2 years). These patie nts were heterogenous on clinical and genetic profiles, but formed thr ee major groups. The largest group consisted of eight patients with OP CA and pigmentary retinal degeneration. The other major groups seen we re OPCAs with peripheral neuropathy and OPCA with pyramidal features. Other clinical features seen were extrapyramidal signs and lower crani al nerve palsies. The CT scan showed varying degrees of cerebellar and pontine atrophy. A more precise resolution of the underlying cause of these disorders requires characterization at the genetic and molecula r level and awaits further study.