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FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.
Annals of Clinical and Translational Neurology ( IF 4.4 ) Pub Date : 2020-03-12 , DOI: 10.1002/acn3.51005
Julie Piarroux 1 , Florence Riant 2 , Véronique Humbertclaude 3 , Ganaelle Remerand 4 , Jessica Hadjadj 2 , Franck Rejou 1 , Christine Coubes 5 , Lucile Pinson 5 , Pierre Meyer 1, 6 , Agathe Roubertie 1, 7
Affiliation  

We report four patients from two families who presented attacks of childhood‐onset episodic ataxia associated with pathogenic mutations in the FGF14 gene. Attacks were triggered by fever, lasted several days, and had variable frequencies. Nystagmus and/or postural tremor and/or learning disabilities were noticed in individuals harboring FGF14 mutation with or without episodic ataxia. These cases and literature data delineate the FGF14‐mutation‐related episodic ataxia phenotype: wide range of age at onset (from childhood to adulthood), variable durations and frequencies, triggering factors including fever, and association to chronic symptoms. We propose to add FGF14‐related episodic ataxia to the list of primary episodic ataxia as Episodic Ataxia type 9.

中文翻译:

FGF14相关的阵发性共济失调:描述9型阵发性共济失调的表型。

我们报告了来自两个家庭的四名患者,这些患者表现出与FGF14基因致病性突变相关的儿童期发作性共济失调发作。发作是由发烧引起的,持续了几天,而且频率不定。在带有FGF14突变的个体中发现眼球震颤和/或姿势性震颤和/或学习障碍,伴或不伴发作性共济失调。这些病例和文献资料描述了FGF14突变相关的情节性共济失调表型:发病年龄范围广泛(从童年到成年),持续时间和频率各不相同,触发因素包括发烧以及与慢性症状的关联。我们建议添加FGF14与发作性共济失调相关的原始发作性共济失调为发作性共济失调9型。
更新日期:2020-03-12
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