Main clinical features
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early-onset neurodevelopmental and degenerative disease associated with atrophy of the upper cerebellar vermis and absence of Purkinje cells
characterized by an early onset spastic ataxia, retained tendon reflexes, abolition of sensory and reduced motor nerve conduction, abolition of reflexes, hypermyelinated retinal and peripheral nerve fibers and hypoplasia of the superior cerebellar vermis and absence of Purkinje cells
retinal nerve fiber layer hypertrophy (PMID:21850161)) |