Familial Hemiplegic Migraine with Prolonged Coma and Cerebellar Atrophy: CACNA1A T666M Mutation in a Korean Family.
10.3346/jkms.2012.27.9.1124
- Author:
Kyung Ho CHOI
1
;
Jang Su KIM
;
Seo Young LEE
;
Suk Won RYU
;
Sam Su KIM
;
Seung Hwan LEE
;
Sunghun KIM
;
Hee Kwon PARK
Author Information
1. Department of Neurology, College of Medicine, Kangwon National University Hospital, Chuncheon, Korea. dr.kim94@gmail.com
- Publication Type:Case Reports
- Keywords:
CACNA1A Gene;
Cerebellar Atrophy;
Familial Hemiplegic Migraine;
T666M
- MeSH:
Asian Continental Ancestry Group/*genetics;
Atrophy/genetics/metabolism;
Calcium Channels/*genetics;
Cerebellum/blood supply/*pathology;
Cerebral Angiography;
Coma/*diagnosis;
Exons;
Heterozygote;
Humans;
Magnetic Resonance Imaging;
Male;
Migraine with Aura/*diagnosis/genetics;
Point Mutation;
Republic of Korea;
Tomography, X-Ray Computed
- From:Journal of Korean Medical Science
2012;27(9):1124-1127
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
