Delineation of the movement disorders associated with FOXG1 mutations.
Delineation of the movement disorders associated with FOXG1 mutations.
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DOI：
10.1212/wnl.0000000000002585
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发表时间：
2016-05-10
期刊：
影响因子：
9.9
通讯作者：
Kurian MA
中科院分区：
文献类型：
--
作者：
Papandreou A;Schneider RB;Augustine EF;Ng J;Mankad K;Meyer E;McTague A;Ngoh A;Hemingway C;Robinson R;Varadkar SM;Kinali M;Salpietro V;O'Driscoll MC;Basheer SN;Webster RI;Mohammad SS;Pula S;McGowan M;Trump N;Jenkins L;Elmslie F;Scott RH;Hurst JA;Perez-Duenas B;Paciorkowski AR;Kurian MA
本研究的主要目的是描述与FOXG 1突变相关的运动障碍。我们确定了FOXG 1突变的患者，他们被转诊到三级运动障碍诊所或三级癫痫服务，并回顾性审查了医疗记录，临床调查，神经影像学和可用的视频录像。我们进行了一个基于电话的问卷调查，关于运动障碍的功能影响和治疗效果的感知到一个队列的参与者的照顾者。我们确定了28例FOXG 1突变患者，其中6例先前未报告突变。各种各样的运动障碍被确定，肌张力障碍，舞蹈手足徐动症，和口舌/面部运动障碍最常见的存在。93%的患者具有混合运动障碍表型。与经典描述的FOXG 1突变的表型相反，4例错义突变患者的表型较轻，有独立的截肢、口语和正常头畸形。多动性不自主运动是这些患者的主要临床特征。针对控制异常不自主运动的对症治疗，大多数没有出现明显的好处，虽然4例患者对左旋多巴有反应。异常不自主运动是FOXG 1突变的主要特征。我们的研究描绘了运动障碍的谱，并证实了扩大的临床表型。对于严重或致残病例，可考虑对症治疗，但需要进一步研究潜在的治疗策略。
The primary objective of this research was to characterize the movement disorders associated with FOXG1 mutations. We identified patients with FOXG1 mutations who were referred to either a tertiary movement disorder clinic or tertiary epilepsy service and retrospectively reviewed medical records, clinical investigations, neuroimaging, and available video footage. We administered a telephone-based questionnaire regarding the functional impact of the movement disorders and perceived efficacy of treatment to the caregivers of one cohort of participants. We identified 28 patients with FOXG1 mutations, of whom 6 had previously unreported mutations. A wide variety of movement disorders were identified, with dystonia, choreoathetosis, and orolingual/facial dyskinesias most commonly present. Ninety-three percent of patients had a mixed movement disorder phenotype. In contrast to the phenotype classically described with FOXG1 mutations, 4 patients with missense mutations had a milder phenotype, with independent ambulation, spoken language, and normocephaly. Hyperkinetic involuntary movements were a major clinical feature in these patients. Of the symptomatic treatments targeted to control abnormal involuntary movements, most did not emerge as clearly beneficial, although 4 patients had a caregiver-reported response to levodopa. Abnormal involuntary movements are a major feature of FOXG1 mutations. Our study delineates the spectrum of movement disorders and confirms an expanding clinical phenotype. Symptomatic treatment may be considered for severe or disabling cases, although further research regarding potential treatment strategies is necessary.