Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family

Yabe, Ichiro; Kitagawa, Mayumi; Suzuki, Yashio; Fujiwara, Keishi; Wada, Takahito; Tsubuku, Takashi; Takeichi, Norihito; Sakushima, Ken; Soma, Hiroyuki; Tsuji, Sachiko; Niino, Masaaki; Saitoh, Shinji; Sasaki, Hidenao

Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family

Yabe, Ichiro; Kitagawa, Mayumi; Suzuki, Yashio et al.

Journal of Neurology, 2008, 255(10), 1541-1544

Permalink : https://hdl.handle.net/2115/39394

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アクセス権	open access
URI	https://hdl.handle.net/2115/39394
タイトル	Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family
著者	Yabe, Ichiro ; Kitagawa, Mayumi ; Suzuki, Yashio ; Fujiwara, Keishi ; Wada, Takahito ; Tsubuku, Takashi ; Takeichi, Norihito ; Sakushima, Ken ; Soma, Hiroyuki ; Tsuji, Sachiko ; Niino, Masaaki ; Saitoh, Shinji ; Sasaki, Hidenao
e-Rad_Researcher 60372273 著者名 Yabe, Ichiro
著者名 Kitagawa, Mayumi
著者名 Suzuki, Yashio
著者名 Fujiwara, Keishi
著者名 Wada, Takahito
著者名 Tsubuku, Takashi
著者名 Takeichi, Norihito
著者名 Sakushima, Ken
著者名 Soma, Hiroyuki
著者名 Tsuji, Sachiko
著者名 Niino, Masaaki
e-Rad_Researcher 00281824 著者名 Saitoh, Shinji
著者名 Sasaki, Hidenao
言語	英語
キーワード	familial hemiplegic migraine
	episodic ataxia
	SCA6
	FHM1
	EA2
	CACNA1A
	downbeat positioning nystagmus
発行日	2008-10
出版者	Steinkopff
収録物名	Journal of Neurology
巻(号)	255(10)
ページ	1541-1544
抄録	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.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	The original publication is available at www.springerlink.com
PISSN	0340-5354
EISSN	1432-1459
NCID	AA00703276
関連情報	PMID 18670797
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1007/s00415-008-0970-z