PubMed 22969264

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Automatically associated channels: Cav2.1

Title: Familial hemiplegic migraine with prolonged coma and cerebellar atrophy: CACNA1A T666M mutation in a Korean family.

Authors: Kyung-Ho Choi, Jang Su Kim, Seo-Young Lee, Suk-won Ryu, Sam Su Kim, Seung-hwan Lee, Sunghun Kim, Hee-Kwon Park

Journal, date & volume: J. Korean Med. Sci., 2012 Sep , 27, 1124-7

PubMed link:

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.