Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study
Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study
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DOI：
10.1159/000315145
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发表时间：
2010-01-01
影响因子：
2.4
通讯作者：
Broussolle, Emmanuel
中科院分区：
文献类型：
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作者：
Jung, Julien;Testard, Herve;Broussolle, Emmanuel
背景：发作性共济失调2型（EA2）的特点是阵发性发作的共济失调和进行性小脑功能障碍。其他表现也可能相关，如有或无先兆的偏头痛发作，失神癫痫和精神发育迟滞。研究方法：描述3例患者的临床表现的家族内变异性，这些患者在外显子7中携带一种新的CACNA1A点突变（核苷酸插入c.1063dupG），这是EA2突变的典型特征。结果如下：3例患者均表现为阵发性共济失调，但发病年龄、相关症状和临床发作时的症状明显不同，其中父亲为偏瘫性偏头痛发作，1例儿童为失神癫痫，另1例儿童为智力低下。结论：EA2的典型表现可能与罕见表现相关，并且在时间上先于罕见表现，例如偏瘫性偏头痛发作、癫痫和智力迟钝。此外，即使在同一家族中，共享给定CACNA1A突变的患者也可能呈现非常不同的表型。版权所有（C）2010 S. Karger AG，巴塞尔
Background: Episodic ataxia type 2 (EA2) is characterized by paroxysmal bouts of ataxia and progressive cerebellar dysfunction. Other manifestations may also be associated, such as migraine attacks with or without aura, absence epilepsy and mental retardation. Methods: To describe the intrafamilial variability of clinical manifestations of 3 patients harboring a novel CACNA1A point mutation in exon 7 (nucleotide insertion c.1063dupG) typical of EA2 mutation. Results: All 3 patients presented paroxysmal bouts of ataxia, but age of onset, associated symptoms and symptoms at clinical onset were clearly distinct with hemiplegic migraine attacks in the father, absence epilepsy in one child and mental retardation in the other child. Conclusion: Typical manifestations of EA2 may be associated and temporally preceded by rare manifestations such as hemiplegic migraine attacks, epilepsy and mental retardation. Moreover, patients sharing a given CACNA1A mutation may present very different phenotypes even within the same family. Copyright (C) 2010 S. Karger AG, Basel