Precedent studies have found abnormalities in the oculomotor system in patients with severe SCA2 form of autosomal dominant cerebellar ataxias (ADCA), including the latency, peak velocity, and deviation in saccadic movements, and causing changes in the morphology of the patient response waveform. This different response suggests a higher degree of statistic independence in sick patients when co...

Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of complex neurodegenerative diseases, characterized by the presence of progressive cerebellar ataxia, associated or otherwise with ophthalmoplegia, pyramidal signs, extrapyramidal features, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. Objective To verify the presence of cognitive dysfunction a...

Spinocerebellar ataxia 8 (SCA8), a triplet repeat expansion disorder, is genetically distinct from the other inherited ataxias, but its unusually variable phenotype can make its diagnosis difficult. In this review we describe 3 new cases of genetically verified SCA8 to highlight the broad clinical spectrum of symptoms observed with this disorder and to draw attention to the features of myoclonu...

Case report A 42-year-old woman of Caucasian ancestry presented with an episode of acute paranoid psychosis, an 8-month history of slowly progressive generalized choreoathetosis, gait and speech disturbance, as well as cognitive impairment. Her choreoathetosis remarkably improved due to olanzapine, and subsequently, cerebellar signs became obvious upon neurologic examination (video, http://link...

Ataxia is the principal symptom of many common neurologic diseases in childhood. Ataxias caused by dysfunction of the cerebellum occur in acute, intermittent, and progressive disorders. Most of the chronic progressive processes are secondary to degenerative and metabolic diseases. In addition, congenital malformation of the midbrain and hindbrain can also be present, with posterior fossa sympto...

OBJECTIVE A group of 27 patients with Friedreich's ataxia and another group of 30 patients with olivopontocerebellar atrophies were each randomly divided into two subgroups, one receiving placebo and the other amantadine hydrochloride (AH; 200 mg daily) for three to four months. METHODS The effect of double blind treatment was evaluated by simple visual and auditory reaction time (RT) and mov...

UNLABELLED The hereditary ataxias comprise a very large spectrum of genetically determined neurodegenerative disorders with progressive ataxia as the prominent symptom. In order to measure the severity of cerebellar ataxia in an easier and more practical way, it was proposed a new scale: the Scale for the Assessment and Rating of Ataxia (SARA). The objective of this study was to translate and v...

Spinocerebellar ataxia (SCA) is the collective term introduced by the genetic classification to autosomal dominantly inherited cerebellar ataxias. SCA comprises a clinically and genetically heterogeneous group of neurodegenerative disorders with ataxia as key symptom (for review see Schöls et al. 2004). SCA does not necessarily mean that degeneration involves the spinal cord or is restricted to...