Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family
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概要
- 論文の詳細を見る
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.
- Steinkopffの論文
著者
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Sugiura Hiroshi
Department Of Surgical Oncology Division Of Cancer Medicine Hokkaido University Graduate School Of M
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Sasaki Hidenao
Department Of Neurology Graduate School Of Medicine Hokkaido University
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Terae Satoshi
Department Of Diagnostic And Interventional Radiology Hokkaido University Hospital
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