Trillet M, Gouttard M, Schott B
Rev Neurol (Paris). 1985;141(3):203-6.
This family is the tenth reported world-wide and the second reported in Europe. Two of 3 brothers, their mother and probably their maternal grandmother were affected.
paroxysmal bouts of ataxia and dysarthria, nystagmus of permanent gaze, the dominant autosomal transmission, the benign nature of the affection and the remarkable efficacy of acetazolamide were typical of familial paroxysmal ataxia. Specific points emphasized are the presence of a mild pyramidal syndrome as a permanent finding in 2 of these patients, and the anomalies of visual (longer lag period) and somesthetic (slowed conduction rate in the lemniscus medialis) evoked potentials probably the result of extension into other pathways than the cerebellar system. The finding of some degree of glucose intolerance, noted previously (Aimard, Vighetto et al., 1983) raises the question of the place of this disease in the group of paroxysmal ataxias due to pyruvic metabolism disorders.
该家族是全球报道的第十个家族，也是欧洲报道的第二个家族。3兄弟中的2人、他们的母亲以及可能他们的外祖母都受到了影响。
阵发性共济失调和构音障碍发作、持续性凝视时的眼球震颤、常染色体显性遗传、病情的良性性质以及乙酰唑胺的显著疗效是家族性阵发性共济失调的典型特征。所强调的特定要点是，其中2例患者存在轻度锥体束征作为永久性表现，以及视觉（潜伏期延长）和躯体感觉（内侧丘系传导速度减慢）诱发电位异常，这可能是病变扩展到小脑系统以外其他通路的结果。先前已注意到的某种程度的葡萄糖耐量异常（艾马尔、维热托等人，1983年），引发了这种疾病在因丙酮酸代谢紊乱导致的阵发性共济失调组中的地位问题。
