Abstract
Hereditary spinocerebellar diseases have high inter- and intra-familiar variability in their onset, course and clinical manifestations. Therefore, recent scientific developments enabled and led to the current trend of verifying hereditary spinocerebellar ataxias at the molecular genetic level; detailed clinical and neurological analysis, on the basis of which these diseases were originally named and described, loses its importance.
The goal of this research was to asctertain with posturographic testing whether posterior column involvement is so typical for Friedreich's ataxia that it may lead to targeted 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, 12 patients with Friedreich's ataxia and 10 healthy controls were subjected to standard posturographic examination. There was no difference between patients with spinocerebellar ataxia type 2 and Friedreich's ataxia in standing position with visual control but the examination clearly demonstrated a difference between patients and healthy controls (mediolateral deviation, anteroposterior deviation p < 0.01).
Upright stance without visual control distinguished patients from healthy controls as well as patients with spinocerebellar ataxia type 2 and Friedreich's ataxia (mediolateral deviation p < 0.01). Our results indicate that, after evaluation of family history and other symptoms, clinical examination focused on cerebellar afferents and, even more appropriately, posturographic examination can be used to direct the first phase of DNA diagnosis as an objective correlate of neurological findings.