LAUSR

An Italian woman in her mid-20s developed unsteadiness, slow movements and difficulty in speaking. She had a normal birth and developmental milestones. At the age of 29 years, she began to complain of spontaneous and action-induced myoclonic jerks involving arms and legs, whereas cognitive decline started when she was 32 years old. She also developed generalized clonic–tonic–clonic seizures. At the age of 33 years, neurological examination revealed severe ataxia of gait and stance, moderate paraparesis, and myoclonic jerks of the upper limbs, either at rest or triggered by movements, intermingled with postural tremor, brisk tendon reflexes on the four limbs and flexor plantar responses. Visual acuity and fundoscopy were normal. Neuropsychological examination indicated a severe cognitive impairment, particularly evident for memory and executive functions. Electroencephalography showed generalized spike and polyspike waves with a photoparoxysmal response. Electrical stimulation of either median nerve produced giant cortical somatosensory evoked potentials with concurrent positive C reflexes. Extensive brain imaging showed a striking atrophy of the cerebellar vermis with parallel glucose hypometabolism (Fig. 1). Brain magnetic resonance imaging also showed diffuse