Lubbers W J, Brunt E R, Scheffer H, Litt M, Stulp R, Browne D L, van Weerden T W
Department of Neurology, University Hospital Groningen, The Netherlands.
J Neurol Neurosurg Psychiatry. 1995 Oct;59(4):400-5. doi: 10.1136/jnnp.59.4.400.
A sixth family with autosomal dominantly inherited myokymia and paroxysmal ataxia is described. The syndrome in this family is linked to the recently discovered locus for inherited myokymia and paroxysmal ataxia on the human chromosome 12p, and a missense mutation is shown in the KCNA1 gene. The attacks of ataxia in this family compare well with those of previously described families and similarly are precipitated by kinesigenic stimuli, exertion, and startle. Responsiveness of these attacks to low dose acetazolamide is confirmed, but some loss of efficacy occurs with prolonged treatment, and side effects are notable. Although not all affected family members showed myokymia on clinical examination, electromyography invariably showed myokymic discharges, in one patient only after a short provocation with regional ischaemia. One affected family member also had attacks of paroxysmal kinesigenic choreoathetosis, responsive to carbamazepine.
本文描述了第六个常染色体显性遗传肌束震颤和阵发性共济失调的家系。该家系中的综合征与人类12号染色体上最近发现的遗传性肌束震颤和阵发性共济失调基因座相关，并且在KCNA1基因中发现了一个错义突变。该家系中的共济失调发作与先前描述的家系相似，同样由运动性刺激、劳累和惊吓诱发。证实了这些发作对低剂量乙酰唑胺有反应，但长期治疗后会出现一定程度的疗效丧失，且副作用明显。尽管并非所有受影响的家庭成员在临床检查中都表现出肌束震颤，但肌电图检查始终显示有肌束震颤放电，其中一名患者仅在局部缺血短暂激发后才出现。一名受影响的家庭成员还患有阵发性运动诱发性舞蹈手足徐动症发作，对卡马西平有反应。
