Familial Hemiplegic Migraine with Prolonged Coma and Cerebellar Atrophy: CACNA1A T666M Mutation in a Korean Family
| Autor: | Sung Hun Kim, Kyung-Ho Choi, Suk-won Ryu, Hee-Kwon Park, Sam Su Kim, Seo-Young Lee, Jang Su Kim, Seung-Hwan Lee |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Heterozygote medicine.medical_specialty Cerebellum Migraine with Aura Case Report Cerebellar Atrophy Familial Hemiplegic Migraine Atrophy Asian People CACNA1A Gene Internal medicine Republic of Korea medicine Humans Point Mutation Coma Familial hemiplegic migraine medicine.diagnostic_test business.industry T666M Exons General Medicine medicine.disease Magnetic Resonance Imaging Migraine with aura Cerebral Angiography Surgery medicine.anatomical_structure Cerebral blood flow Cardiology Cerebellar atrophy Calcium Channels medicine.symptom Tomography X-Ray Computed business Neuroscience Cerebral angiography |
| Zdroj: | Journal of Korean Medical Science |
| ISSN: | 1598-6357 1011-8934 |
| DOI: | 10.3346/jkms.2012.27.9.1124 |
| Popis: | We report the first Korean patient with familial hemiplegic migraine type 1, with clinical and multimodal imaging findings. A 43-yr-old man was admitted for right hemianopia and aphasia, followed by coma. MRI showed only cerebellar atrophy. CT angiography showed mild vasodilation of intracranial blood vessels and increased vascularity in the left hemisphere and perfusion-weighted imaging showed elevated cerebral blood flow. Gene analysis of the patient and his mother led to the identification of a heterozygous point mutation (1997C→T, T666M) in exon 16 of the CACNA1A gene. Familial hemiplegic migraine should be considered in patients with episodic neurological dysfunction with cerebellar atrophy. |
| Databáze: | OpenAIRE |
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