title: Familial hemiplegic migraine with prolonged coma and cerebellar atrophy: CACNA1A T666M mutation in a Korean family.
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.
authors.affiliation: Department of Neurology, College of Medicine, Kangwon National University Hospital, Chuncheon, Korea.
authors.forename: Kyung-Ho
authors.initials: KH
authors.lastname: Choi
authors.forename: Jang Su
authors.initials: JS
authors.lastname: Kim
authors.forename: Seo-Young
authors.initials: SY
authors.lastname: Lee
authors.forename: Suk-won
authors.initials: SW
authors.lastname: Ryu
authors.forename: Sam Su
authors.initials: SS
authors.lastname: Kim
authors.forename: Seung-hwan
authors.initials: SH
authors.lastname: Lee
authors.forename: Sunghun
authors.initials: S
authors.lastname: Kim
authors.forename: Hee-Kwon
authors.initials: HK
authors.lastname: Park
mesh_terms: D044466:Asian People / Q000235:genetics*; D001284:Atrophy / Q000235:genetics / Q000378:metabolism; D015220:Calcium Channels / Q000235:genetics*; D002531:Cerebellum / Q000098:blood supply / Q000473:pathology*; D002533:Cerebral Angiography; D003128:Coma / Q000175:diagnosis*; D005091:Exons; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020325:Migraine with Aura / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation; D056910:Republic of Korea; D014057:Tomography, X-Ray Computed; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type