After diagnosing autosomal dominant cerebellar ataxia (ADCA) in a patient referred to our hospital, we decided to screen his family at home with the aim of indentifying symptomatic subjects. Methods. We examined 15 subjects (6 females, 9 males). Posturography was performed using a dynamometric platform with three transducers. The evaluation included two 30- second tests with eyes open and closed, performed in the Romberg position or, if not sustainable, with abduction of the legs. We considered the following parameters: the mean amplitude of postural sway in the antero-posterior plane (Y) and the lateral (X), the sway area and the sway path. All parameters were measured both with eyes open and closed and Romberg's quotient was calculated. The data obtained were compared with reference values. Results. Seven out of 15 subjects showed pathological findings at the neurological examination. The remaining 8 subjects did not show abnormal findings. The sway area and sway path values were noticeably abnormal in all of the subjects investigated, while the mean amplitude values in the anteroposterior and lateral directions were slightly higher than the reference values. Discussion. The clinical examination revealed a predominantly postural ataxia and lower limb muscle cramp at rest in all of the symptomatic members of a family affected by ADCA. The investigation led to the identification of 7 subjects with abnormal clinical and posturographical data.
|Number of pages||5|
|Publication status||Published - 1997|
- Cerebellar ataxia
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