シミズ　ユウコ   SHIMIZU Yuko   清水　優子    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	A case of biopsy-proven leptomeningeal amyloidosis and intravenous Ig-responsive polyneuropathy associated with the Ala25Thr transthyretin gene mutation.
掲載誌名	正式名：Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 略　 称：Amyloid ISSNコード：13506129/13506129
掲載区分	国内
巻・号・頁	13(1),pp.37-41
著者・共著者	Shimizu Yuko†*, Takeuchi Megumi, Matsumura Miyuki, Tokuda Takahiko, Iwata Makoto
担当区分	筆頭著者,責任著者
発行年月	2006/03
概要	A growing body of literature has described familial leptomeningeal amyloidosis, a rare phenotype resulting from deposition of transthyretin (TTR) amyloid within the leptomeninges. We report herein the case of a patient with leptomeningeal amyloidosis presenting with hearing loss, asymmetrical polyneuropathy and sensory ataxia. This is the first Japanese case displaying TTR mutation at codon 25, replacing alanine with threonine. Neurophysiological examinations suggested demyelinating polyradiculoneuropathy, which improved dramatically after high-dose intravenous immunoglobulin treatment. Demyelinating polyneuropathy in our patient may be attributable to massive leptomeningeal amyloidosis, and no systemic organ involvement was identified. These characteristic clinical manifestations may have resulted from the Ala25Thr TTR gene mutation.
DOI	10.1080/13506120600551814
PMID	16690499