Department of Neurology, University of California Irvine, Irvine, California, USA.
Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University of Buffalo, The State University of New York, Buffalo, New York, USA.
Headache. 2023 Jul-Aug;63(7):975-980. doi: 10.1111/head.14594. Epub 2023 Jun 27.
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.
证明已知的 CACNA1A 变体与无偏瘫的延长性失语先兆症状有关。
无偏瘫的延长性失语的通常鉴别诊断包括血管疾病、癫痫、代谢紊乱和偏头痛。CACNA1A 基因的基因突变可导致多种表型，包括家族性偏瘫性偏头痛（FHM）1 型，这是一种常染色体显性疾病，特征为单侧、有时延长的无力先兆。尽管失语症是偏头痛先兆的常见特征，无论是伴有还是不伴有偏瘫，但尚未报道 CACNA1A 突变与无偏瘫的失语症有关。
我们报告了一例 51 岁男性的病例，他反复发作无偏瘫的延长性失语症，持续数天至数周。他的头痛是左侧的，他的家人描述为“混乱”。检查时，他出现全面性失语症，无其他局灶性发现。家族史显示，有几个亲属有严重头痛病史，伴有神经功能缺损，包括失语症和/或无力。影像学检查显示 MRI 扫描左顶颞枕叶区域存在 T2 高信号，SPECT 显示相应的高灌注。基因检测显示 CACNA1A 基因的错义突变。
本病例扩展了 CACNA1A 突变和 FHM 的表型谱，包括无偏瘫的延长性失语先兆。我们患者的 SPECT 成像显示，在与先兆症状相关的区域存在高灌注，这些症状可发生在延长的先兆期。
