Abstract：
To demonstrate that a known CACNA1A variant is associated with a phenotype of prolonged aphasic aura without hemiparesis.
The usual differential diagnosis of prolonged aphasia without hemiparesis includes vascular disease, seizure, metabolic derangements, and migraine. Genetic mutations in the CACNA1A gene can lead to a myriad of phenotypes, including familial hemiplegic migraine (FHM) type 1, an autosomal dominant disorder characterized by an aura of unilateral, sometimes prolonged weakness. Though aphasia is a common feature of migraine aura, with or without hemiparesis, aphasia without hemiparesis has not been reported with CACNA1A mutations.
We report the case of a 51-year-old male who presented with a history of recurrent episodes of aphasia without hemiparesis lasting days to weeks. His headache was left sided and was heralded by what his family described as \"confusion.\" On examination, he had global aphasia without other focal findings. Family history revealed several relatives with a history of severe headaches with neurologic deficits including aphasia and/or weakness. Imaging revealed T2 hyperintensities in the left parietal/temporal/occipital regions on MRI scan with corresponding hyperperfusion on SPECT. Genetic testing revealed a missense mutation in the CACNA1A gene.
This case expands the phenotypic spectrum of the CACNA1A mutation and FHM to include prolonged aphasic aura without hemiparesis. Our patient\'s SPECT imaging demonstrated hyperperfusion in areas correlating with aura symptoms which can occur in prolonged aura.
The usual differential diagnosis of prolonged aphasia without hemiparesis includes vascular disease, seizure, metabolic derangements, and migraine. Genetic mutations in the CACNA1A gene can lead to a myriad of phenotypes, including familial hemiplegic migraine (FHM) type 1, an autosomal dominant disorder characterized by an aura of unilateral, sometimes prolonged weakness. Though aphasia is a common feature of migraine aura, with or without hemiparesis, aphasia without hemiparesis has not been reported with CACNA1A mutations.
We report the case of a 51-year-old male who presented with a history of recurrent episodes of aphasia without hemiparesis lasting days to weeks. His headache was left sided and was heralded by what his family described as \"confusion.\" On examination, he had global aphasia without other focal findings. Family history revealed several relatives with a history of severe headaches with neurologic deficits including aphasia and/or weakness. Imaging revealed T2 hyperintensities in the left parietal/temporal/occipital regions on MRI scan with corresponding hyperperfusion on SPECT. Genetic testing revealed a missense mutation in the CACNA1A gene.
This case expands the phenotypic spectrum of the CACNA1A mutation and FHM to include prolonged aphasic aura without hemiparesis. Our patient\'s SPECT imaging demonstrated hyperperfusion in areas correlating with aura symptoms which can occur in prolonged aura.
摘要：
目的：证明已知的CACNA1A变体与无偏瘫的长期失语先兆表型相关。
背景：无偏瘫的长期失语通常的鉴别诊断包括血管疾病，癫痫发作,代谢紊乱，还有偏头痛.CACNA1A基因的基因突变可以导致无数的表型，包括家族性偏瘫性偏头痛（FHM）1型，一种以单侧先兆为特征的常染色体显性疾病，有时长时间的虚弱。尽管失语症是偏头痛先兆的常见特征，无论有无偏瘫，无偏瘫的失语症尚未报道CACNA1A突变。
方法：我们报告了一例51岁男性，他有反复发作的失语症史，但偏瘫持续数天至数周。他的头痛是左边的，被他的家人所说的“混乱”所预示。\"在检查中，他有全局性失语症，没有其他局灶性发现。家族史显示有几位亲属有严重头痛的病史，伴有神经缺陷，包括失语和/或虚弱。成像显示，MRI扫描显示左顶叶/颞叶/枕叶区域的T2高信号，SPECT显示相应的高灌注。基因检测揭示了CACNA1A基因的错义突变。
结论：该病例扩大了CACNA1A突变和FHM的表型谱，包括无偏瘫的长期失语先兆。我们的患者的SPECT成像显示与先兆症状相关的区域过度灌注，这可能发生在长期先兆中。
背景：无偏瘫的长期失语通常的鉴别诊断包括血管疾病，癫痫发作,代谢紊乱，还有偏头痛.CACNA1A基因的基因突变可以导致无数的表型，包括家族性偏瘫性偏头痛（FHM）1型，一种以单侧先兆为特征的常染色体显性疾病，有时长时间的虚弱。尽管失语症是偏头痛先兆的常见特征，无论有无偏瘫，无偏瘫的失语症尚未报道CACNA1A突变。
方法：我们报告了一例51岁男性，他有反复发作的失语症史，但偏瘫持续数天至数周。他的头痛是左边的，被他的家人所说的“混乱”所预示。\"在检查中，他有全局性失语症，没有其他局灶性发现。家族史显示有几位亲属有严重头痛的病史，伴有神经缺陷，包括失语和/或虚弱。成像显示，MRI扫描显示左顶叶/颞叶/枕叶区域的T2高信号，SPECT显示相应的高灌注。基因检测揭示了CACNA1A基因的错义突变。
结论：该病例扩大了CACNA1A突变和FHM的表型谱，包括无偏瘫的长期失语先兆。我们的患者的SPECT成像显示与先兆症状相关的区域过度灌注，这可能发生在长期先兆中。
