Abstract
There is high variability in onset and course of the hereditary ataxias. Clinical manifestation among inherited inter- and intra-spinocerebellar diseases is common.
Therefore, the current trend of verifying hereditary spinocerebellar ataxias at the molecular genetic level is the result of scientific progress; Detailed clinical and neurological analysis, on the basis of which similar diseases were given various names, loses importance and fades into the background. The goal of the current work, based on posturographic testing results, was to verify whether posterior column disability is typical for Friedreich's ataxia and leads to target DNA diagnosis of spinocerebellar degeneration.
Autosomal dominant spinocerebellar ataxia type 2 and Friedreich's ataxia are among the most common hereditary ataxias in the Czech Republic Therefore, 17 patients with spinocerebellar ataxia type 2 and 12 patients with Friedreich's ataxia were subjected to standard posturographic examination with 10 health controls. There was no difference between patients with spinocerebellar ataxia type 2 and Friedreich's ataxia when in standing position with visual control but the difference between patients and health controls mediolateral deviation, anteroposterior deviation p <0.01 was clearly demonstrated by the examination.
Upright stance without visual control distinguished patients from health controls. Distinct differences were noted between spinocerebellar ataxia type 2 and Friedreich ataxia patients (mediolateral deviation p <0.01).
Our results indicate that, after evaluation of family history and other symptoms, it is possible to utilize, at the very start of the first phase of DNA diagnosis, clinical examination focused on cerebellar afferents and, more appropriately, posturographic examination as objective correlate of neurological findings.