Autonomic nerve calcification and peripheral neuropathy in olivopontocerebellar atrophy.
This report concerns an unusual form of olivopontocerebellar atrophy (OPCA) of adult onset, inherited as an autosomal dominant. We examined 5 patients in one generation and performed neuropathological investigations in 3 of these. The clinical and pathological features were different from those of OPCA types I to V. Apart from olivopontocerebellar degeneration, there was dementia in 4, massive atrophy of the spinal cord in 3, and focal degeneration of the optic nerves in at least 1 case. The most remarkable findings were, however, the involvement of the peripheral nervous system and the abundant intrafascicular calcification in sympathetic nerve fibers and in their ganglia.
D001284:Atrophy; D001342:Autonomic Nervous System Diseases / Q000235:genetics / Q000473:pathology*; D002114:Calcinosis / Q000473:pathology*; D002524:Cerebellar Ataxia / Q000235:genetics / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D005728:Ganglia, Sympathetic / Q000473:pathology; D006801:Humans; D008854:Microscopy, Electron; D008875:Middle Aged; D009410:Nerve Degeneration; D009847:Olivary Nucleus / Q000473:pathology*; D010375:Pedigree; D011149:Pons / Q000473:pathology*; D013116:Spinal Cord / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology