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

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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
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
Type: article (author version)
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)

Submitter: 矢部 一郎

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