Clinical and radiological features of juvenile onset olivopontocerebellar atrophy

Olivopontocerebellar atrophy (OPCA) is uncommon in childhood. We encountered 17 consecutive patients with clinical and radiological features of OPCA with a juvenile onset (mean onset age 8.2 years). These patients were heterogenous on clinical and genetic profiles, but formed three major groups. The largest group consisted of eight patients with OPCA and pigmentary retinal degeneration. The other major groups seen were OPCAs with peripheral neuropathy and OPCA with pyramidal features. Other clinical features seen were extrapyramidal signs and lower cranial 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 molecular level and awaits further study.