Title: | Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family |
Authors: | Yabe, Ichiro Browse this author →KAKEN DB |
Kitagawa, Mayumi Browse this author |
Suzuki, Yashio Browse this author |
Fujiwara, Keishi Browse this author |
Wada, Takahito Browse this author |
Tsubuku, Takashi Browse this author |
Takeichi, Norihito Browse this author |
Sakushima, Ken Browse this author |
Soma, Hiroyuki Browse this author |
Tsuji, Sachiko Browse this author |
Niino, Masaaki Browse this author |
Saitoh, Shinji Browse this author →KAKEN DB |
Sasaki, Hidenao Browse this author |
Keywords: | familial hemiplegic migraine |
episodic ataxia |
SCA6 |
FHM1 |
EA2 |
CACNA1A |
downbeat positioning nystagmus |
Issue Date: | Oct-2008 |
Publisher: | Steinkopff |
Journal Title: | Journal of Neurology |
Volume: | 255 |
Issue: | 10 |
Start Page: | 1541 |
End Page: | 1544 |
Publisher DOI: | 10.1007/s00415-008-0970-z |
PMID: | 18670797 |
Abstract: | Clinical examination and mutational analysis were carried out in three patients of a Japanese familial hemiplegic migraine (FHM) pedigree. Each affected member demonstrated a broad clinical spectrum that included hemiplegic migraine with progressive cerebellar ataxia, migraine without aura, and episodic ataxia. Despite this variability, all members exhibited marked downbeat positioning nystagmus, and magnetic resonance images (MRI) all showed cerebellar atrophy predominantly of the cerebellar vermis. All affected members had a T666M missense mutation in the protein encoded by the CACNA1A gene (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit). Although clinical features associated with the T666M CACNA1A mutation are highly variable, downbeat positioning nystagmus may be an important clinical feature of this disease. |
Rights: | The original publication is available at www.springerlink.com |
Type: | article (author version) |
URI: | http://hdl.handle.net/2115/39394 |
Appears in Collections: | 医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
|