Rohani Mohammad, Lang Anthony E, Sina Farzad, Elahi Elahe, Fasano Alfonso, Hardy John, Bras Jose, Alavi Afagh
Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease Toronto Western Hospital and Division of Neurology University of Toronto Toronto Ontario Canada.
Department of Neurology Hazrat Rasool Hospital Iran University of Medical Sciences Tehran Iran.
Mov Disord Clin Pract. 2017 Dec 28;5(2):195-199. doi: 10.1002/mdc3.12570. eCollection 2018 Mar-Apr.
Kufor-Rakeb syndrome (KRS) is a rare autosomal recessive neurologic disease with diverse phenotypic features. Herein we report an Iranian KRS family with seizure and action myoclonus in addition to other typical manifestations of this syndrome.
All family members underwent careful neurologic examination. Exome sequencing was performed and variation genotyped in all family members.
Cognitive deficits, hypokinesia, rigidity, spasticity, brisk deep tendon reflexes, upward gaze palsy, tremor, and facial-faucial-finger mini-myoclonus were the common manifestations of all affected siblings. Two cases had seizure and the most severely affected sibling demonstrated severe action myoclonus. Exome sequencing identified a homozygous nonsense mutation c.2455C>T;p.Arg819* in gene.
We reported five KRS affected siblings who manifested myoclonus and seizure. The most severely affected one demonstrated action myoclonus, which has not been reported so far.
库福尔-拉凯布综合征（KRS）是一种罕见的常染色体隐性神经疾病，具有多种表型特征。在此，我们报告一个伊朗KRS家族，除了该综合征的其他典型表现外，还出现了癫痫发作和动作性肌阵挛。
所有家庭成员均接受了仔细的神经系统检查。进行了外显子组测序，并对所有家庭成员的变异进行了基因分型。
认知缺陷、运动减少、僵硬、痉挛、深腱反射亢进、向上凝视麻痹、震颤以及面-咽-指微小肌阵挛是所有受影响兄弟姐妹的常见表现。两例出现癫痫发作，受影响最严重的兄弟姐妹表现出严重的动作性肌阵挛。外显子组测序在该基因中鉴定出一个纯合无义突变c.2455C>T；p.Arg819*。
我们报告了五名受KRS影响的兄弟姐妹，他们表现出肌阵挛和癫痫发作。受影响最严重的一名表现出动作性肌阵挛，这是迄今为止尚未报道过的。
