Autosomal-dominant chorea-acanthocytosis: Report of a family and neuropathology

We report a family with autosomal-dominant inheritance of chorea-acanthocytosis. Clinical and hematological evaluations were performed on all available family members and neuropathologic examination was performed on one patient. There were variable clinical features of chorea or parkinsonism, and marked cognitive changes. On hematologic analysis there were abnormalities of band 3. Neuropathologic examination revealed severe neuronal loss in the caudate-putamen and intranuclear inclusion bodies throughout the cerebral cortex. These inclusion bodies were immunoreactive for ubiquitin, expanded polyglutamine repeats, and torsinA. This family extends the genetic spectrum of chorea-acanthocytosis to include autosomal-dominant inheritance, possibly due to expanded trinucleotide repeats.