| Main clinical features
|
slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system
adult-onset spinocerebellar ataxia and peripheral neuropathy
EMG showed a severe motor neuropathy with preserved sensory responses; nerve conduction velocities were normal; brain imaging showed moderate cerebellar vermis atrophy; sural nerve biopsy showed a prominent reduction of large and medium myelinated axons |