尤因-伦德伯格病：在荷兰诊断不足。
Univerricht-Lundborg disease: underdiagnosed in the Netherlands.
作者信息
de Haan Gerrit-Jan, Halley Dicky J J, Doelman Jan C, Geesink Huibert H, Augustijn Paul B, Jager-Jongkind Anke D, Majoie Marianne, Bader Adri J, Leliefeld-Ten Doeschate Lian A W M, Deelen Wout H, Bertram Ed, Lehesjoki Anna E, Lindhout Dick
机构信息
Epilepsy Institute of the Netherlands SEIN, Heemstede, the Netherlands.
出版信息
Epilepsia. 2004 Sep;45(9):1061-3. doi: 10.1111/j.0013-9580.2004.43703.x.
PURPOSE
Univerricht-Lundborg disease (ULD), with its major symptom of action myoclonus, is supposed to be very rare in the Netherlands and western Europe. We hypothesized that the syndrome may be underdiagnosed in patients with myoclonus epilepsy.
METHODS
Mutation analysis of the cystatin B gene was performed in 21 cases with uncontrolled myoclonus.
RESULTS
Seven of the 21 evaluated cases carried mutations in the cystatin B gene. Diagnosis of ULD was made with a mean delay of 20 years from symptom onset.
CONCLUSIONS
This study from a country without previous reports of ULD suggests that underdiagnosis of the syndrome is likely. These findings also indicate that persons with juvenile-onset myoclonus epilepsy with action myoclonus should be analyzed for ULD.
目的
乌尼韦里希特 - 伦德伯格病（ULD）的主要症状为动作性肌阵挛，据推测在荷兰和西欧极为罕见。我们推测该综合征在肌阵挛性癫痫患者中可能未得到充分诊断。
方法
对21例未得到控制的肌阵挛患者进行了胱抑素B基因的突变分析。
结果
在21例接受评估的病例中，有7例携带胱抑素B基因突变。ULD的诊断从症状出现到确诊平均延迟了20年。
结论
这项来自此前尚无ULD报告国家的研究表明，该综合征很可能未得到充分诊断。这些发现还表明，对于患有动作性肌阵挛的青少年肌阵挛性癫痫患者，应进行ULD分析。
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