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

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 blo...

Full description

Saved in:
Bibliographic Details
Published in:Journal of Korean medical science 2012, 27(9), 168, pp.1124-1127
Main Authors: Choi, Kyung-Ho, Kim, Jang Su, Lee, Seo-Young, Ryu, Suk-won, Kim, Sam Su, Lee, Seung-hwan, Kim, Sunghun, Park, Hee-Kwon
Format: Article
Language:English
Subjects:
Asian Continental Ancestry Group - genetics
Atrophy - genetics
Atrophy - metabolism
Calcium Channels - genetics
Case Report
Cerebellum - blood supply
Cerebellum - pathology
Cerebral Angiography
Coma - diagnosis
Exons
Heterozygote
Humans
Magnetic Resonance Imaging
Male
Migraine with Aura - diagnosis
Migraine with Aura - genetics
Point Mutation
Republic of Korea
Tomography, X-Ray Computed
의학일반
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1011-8934
1598-6357
DOI:10.3346/jkms.2012.27.9.1124