Escribano J B, Moltó J M, Martínez-García F A, Morales A, Jiménez-Martínez J M, Fernández-Barreiro A
Servicio de Neurologia, Hospital Universitario Virgen de la Arrixaco, Murcia.
Rev Neurol. 1996 May;24(129):567-9.
Over the last years several families affected of a clinical syndrome characterized by sudden ataxia, related to physical or mental stress, and lasting a few days have been described. Intercritical exploration is otherwise normal. We describe a new case which presents the clinical, laboratory and neuroradiological data characteristic of periodic familial ataxia. The patient is a 34 year old male who from his 23 has suffered three crisis of gait inestability, ataxia of trunk and limbs and spontaneous nystagmus in every direction, which increased in association with head movement. These episodes were always in relation with fatigue and stress and have decreased in severity. Mean duration of crisis has been 4 to 6 days. After starting treatment with acetazolamide there have no new crisis. In this case we have found no family history of the disease as it was the rule in previous description.
在过去几年中，已有多例患有以突发共济失调为特征的临床综合征的家族被报道，该综合征与身心压力有关，持续数天。发作间期的检查结果正常。我们描述了一个新病例，该病例呈现出周期性家族性共济失调的临床、实验室和神经放射学特征。患者为一名34岁男性，自23岁起经历了三次步态不稳、躯干和四肢共济失调以及向各个方向的自发性眼球震颤发作，这些症状在头部运动时会加重。这些发作总是与疲劳和压力有关，且严重程度有所减轻。发作的平均持续时间为4至6天。开始使用乙酰唑胺治疗后未再出现新的发作。在该病例中，我们未发现该病的家族史，而在之前的描述中这是常见情况。
