Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias.

Diagnosis at a first glance? "Bulging eyes" as a clue for a more accurate diagnosis in spinocerebellar ataxias.

Autosomal dominant spinocerebellar ataxias

Key-words Disease name and synonyms Diagnostic criteria / Definition Classification Prevalence Clinical description Differential diagnosis Management Diagnostic methods Genetic counselling Outlook References

MRI Findings in Spinocerebellar Ataxias

The recent advances in genetic analysis have facilitated the classification of autosomal dominant or recessive spinocerebellar ataxia. Although differential diagnosis of spinocerebellar ataxia is clinically very complicated, MRI characteristics may be an important tool for diagnosis. In the present review article, we summarize the skills of neuroradiology for a diagnosis of various types of spi...

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.

Among the hereditary ataxias, autosomal recessive spinocerebellar ataxias comprise a diverse group of neurodegenerative disorders. Clinical phenotypes vary from predominantly cerebellar syndromes to sensorimotor neuropathy, ophthalmological disturbances, involuntary movements, seizures, cognitive dysfunction, skeletal anomalies, and cutaneous disorders, among others. Molecular pathogenesis also...

Problems and possibilities in the differential diagnosis of Syndrome Spinocerebellar Ataxia.

Differential diagnosis in neurologic patients with spinocerebellar syndrome is complex as a result of the great degree of variability in phenotypic and genetic aspects of more than 200 nosological entities. In the past decade, genetic etiology has been discovered in part of the diseases and the term ''spinocerebellar ataxia'' has become, from a neurologic point of view, a loose definition appli...