Episodic Ataxia Type 2 with Downbeating Nystagmus Caused by Mutation in the CACNA1A: A Case Report

Episodic ataxia type 2 (EA 2) is a rare disorder characterized by intermittent episodes of ataxia with interictal nystagmus. The authors report a patient with EA 2, who presented with recurrent episodes of vertigo, gait ataxia and interictal downbeat nystagmus, which had developed about 16 years before. The chromosomal analysis revealed a translocation between chromosome 7 and chromosome 19 (t(7;19)). The break point in chromosome 19 was the P13 locus of the CACNA1A gene.

Change of the Balance Function with Aging: Computerized Dynamic Posturography Study

BACKGROUND: The purpose of this study is to evaluate balance functions as one ages using the values of the sensory organization test (SOT) and the motor control test (MCT) of computerized dynamic posturography (CDP) in healthy Korean adults. METHODS: We studied the equilibrium scores of the SOT and weight symmetries, latencies, and adaptation scores of the MCT in 72 healthy Korean adults. Subjects were divided into three age groups, the 30's (young group), 50's (middle-aged group), and 70's (elderly group). RESULTS: In the SOT, the range of mean equilibrium scores was from 69.8 to 94.2 in the 3rd decade group, 62.6 to 93.8 in the 5th decade group, 59.2 to 91.2 in the 7th decade group. In the MCT, during sudden anterior and posterior perturbations, the weight symmetries were 101.1 +/- 7.5 in the 3rd decade group, 103.6 +/- 6.9 in the 5th decade group, and 106.4 +/- 9.4 in the 7th decade group. The mean latencies were 123.6-132.8 msec in the 3rd decade group, 130.5-138.5 msec in the 5th decade group, 132.7-141.8 msec in the 7th decade group. CONCLUSIONS: Almost all measures of balance were significantly worse in the elderly group compared with the young group and some changes of balance were observed in the middle-aged group as well. These significant age-associated declines of balance function suggested the decreased capacity to process sensory inputs in aged persons. This occurs most likely as a result of biomechanical or central processing changes.