Abstract：
OBJECTIVE: Mutations in CACNA1A gene can cause rare neurodegenerative conditions [spinocerebellar ataxia type 6 (SCA6); episodic ataxia type 2 (EA2)] which are caused by autosomal dominant mutations located on chromosome 19p13. Research suggests triplet repeat mutations in the CACNA1A gene are associated with SCA6 characterized by late onset, slowly progressive cerebellar ataxia. On the other hand, CACNA1A mutation with specific protein variant R1661H involvement is associated with EA2, characterized by early onset ataxia, which may be accompanied by vertigo, diplopia, dysarthria, and generalized weakness. We present a patient with genetically confirmed mutation in CACNA1A (p.1661H), not fitting the phenotype of EA2 despite associated variant.
METHODS: A retrospective review of the patient\'s medical record along with review of neuropsychological and neuroimaging reports.
RESULTS: Neuropsychological testing revealed a 79-year-old female who demonstrated executive, memory retrieval, construction and fine motor dexterity slowing along with dysfluency and anomia. Neurologic exam documented bilateral blepharospasm, with mild ataxia and speech disturbance (SARA total = 12). Neuroimaging revealed moderate cortical atrophy and chronic small vessel ischemia disease. Behavioral observations were notable for gait ataxia and dysarthria, as well as perseverative responding and anosognosia. She endorsed symptoms indicative of clinical levels of depression, apathy, anxiety and disinhibition. Her partner endorsed more notable executive dysfunction symptoms and functional impairment.
CONCLUSIONS: While the motor sequela is well documented, the neuropsychological impact is infrequently discussed in existing literature regarding CACNA1A (p.1661H) mutations. This case expands our understanding of the unique and varied phenotype associated with this unique CACNA1A gene variant.
METHODS: A retrospective review of the patient\'s medical record along with review of neuropsychological and neuroimaging reports.
RESULTS: Neuropsychological testing revealed a 79-year-old female who demonstrated executive, memory retrieval, construction and fine motor dexterity slowing along with dysfluency and anomia. Neurologic exam documented bilateral blepharospasm, with mild ataxia and speech disturbance (SARA total = 12). Neuroimaging revealed moderate cortical atrophy and chronic small vessel ischemia disease. Behavioral observations were notable for gait ataxia and dysarthria, as well as perseverative responding and anosognosia. She endorsed symptoms indicative of clinical levels of depression, apathy, anxiety and disinhibition. Her partner endorsed more notable executive dysfunction symptoms and functional impairment.
CONCLUSIONS: While the motor sequela is well documented, the neuropsychological impact is infrequently discussed in existing literature regarding CACNA1A (p.1661H) mutations. This case expands our understanding of the unique and varied phenotype associated with this unique CACNA1A gene variant.
摘要：
目的：CACNA1A基因突变可引起罕见的神经退行性疾病[脊髓小脑共济失调6型（SCA6）；发作性共济失调2型（EA2）]，这是由染色体19p13上的常染色体显性突变引起的。研究表明，CACNA1A基因中的三联体重复突变与以晚发作为特征的SCA6相关。缓慢进行性小脑共济失调.另一方面,具有特定蛋白变体R1661H参与的CACNA1A突变与EA2相关，特征为早发性共济失调，可能伴有眩晕，复视,构音障碍,和普遍的弱点。我们介绍了一名CACNA1A基因证实突变的患者（第1661H页），尽管相关变异，但不符合EA2的表型。
方法：回顾性回顾患者的病历以及神经心理学和神经影像学报告。
结果：神经心理学测试显示，一名79岁的女性，记忆检索,结构和精细的运动灵巧度随着功能失调和失范而减慢。神经系统检查记录双侧眼睑痉挛，轻度共济失调和言语障碍（SARA总计=12）。神经影像学显示中度皮质萎缩和慢性小血管缺血疾病。行为观察值得注意的是步态共济失调和构音障碍，以及坚持不懈的反应和失认症。她认可了临床抑郁症的症状，冷漠,焦虑和抑制。她的伴侣赞同更明显的执行功能障碍症状和功能障碍。
结论：虽然运动后遗症有很好的记录，关于CACNA1A(p.1661H)突变的现有文献很少讨论神经心理学影响.这种情况扩展了我们对与这种独特的CACNA1A基因变体相关的独特和变化的表型的理解。
方法：回顾性回顾患者的病历以及神经心理学和神经影像学报告。
结果：神经心理学测试显示，一名79岁的女性，记忆检索,结构和精细的运动灵巧度随着功能失调和失范而减慢。神经系统检查记录双侧眼睑痉挛，轻度共济失调和言语障碍（SARA总计=12）。神经影像学显示中度皮质萎缩和慢性小血管缺血疾病。行为观察值得注意的是步态共济失调和构音障碍，以及坚持不懈的反应和失认症。她认可了临床抑郁症的症状，冷漠,焦虑和抑制。她的伴侣赞同更明显的执行功能障碍症状和功能障碍。
结论：虽然运动后遗症有很好的记录，关于CACNA1A(p.1661H)突变的现有文献很少讨论神经心理学影响.这种情况扩展了我们对与这种独特的CACNA1A基因变体相关的独特和变化的表型的理解。
