| Main clinical features
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spinocerebellar ataxia with hepatopathy
neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood, and also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy; mild learning disabilities may also occur
nerve conduction studies showed a mixed sensorimotor peripheral neuropathy, and brain imaging showed atrophy of the cerebellar vermis |