a 50 year-old man was referred with history of acute ataxia and lower extremity paresthesia 10 days after general anesthesia with nitrous oxide. cervical mri showed long hypersignal lesion in posterior segment of the cord. blood analysis revealed vitamin b12 deficiency. nitrous oxide-induced myelopathy should be considered in patients who develop acute neurological manifestation after general a...

Central motor conduction to small hand muscles was measured using magnetic stimulation of the motor cortex and electrical stimulation of proximal motor roots in 11 patients with Friedreich's ataxia, 10 patients with early onset cerebellar ataxia with retained tendon reflexes (EOCA) and 13 patients with late onset degenerative cerebellar disease (LOCD). Central motor conduction was abnormal in 9...

BACKGROUND Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder that usually presents with ataxia, areflexia, and proprioceptive and vibratory sensory loss. Dystonia has been reported rarely. CASE REPORT An 11-year-old female presented with dystonic head tremor and cervical and bilateral arm dystonia. Her 14-year-old older brother had dystonic head tremor and generalized...

This is a case of a 70-year-old man with severe peripheral neuropathy, type 2 diabetes and progressively worsening cerebellar ataxia. He was found to have circulating antigliadin and antireticulin antibodies compatible with celiac disease in the absence of intestinal pathology. The peripheral neuropathy improved with a gluten-free diet, antioxidants and intravenous immunoglobulin, whereas the a...

Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with r...

A 20-year-old man presented with vertigo followed by hourly episodes of dysarthria and incoordination lasting 5–20 seconds (video 1). Neurologic examination was normal between episodes. The only brain/spine MRI lesion in the right superior cerebellar peduncle (figure, A). CSF analysis revealed elevated white blood cells (6/?L [normal, 0–5]) oligoclonal bands (?4). Paroxysmal dysarthria–ataxia a...

BACKGROUND Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder mainly diagnosed in Japan. Its prevalence is low in other countries. Three phenotypes are described: choreoathetoid movements, cerebellar ataxia, and progressive myoclonic epilepsy. OBJECTIVE To evaluate the frequency of DRPLA in European patients with sporadic or autosomal dominant cerebellar ataxia....