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シミズ ユウコ
SHIMIZU Yuuko
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 |
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| Article types | Case report |
| Language | English |
| Peer review | Peer reviewed |
| Title | A case of biopsy-proven leptomeningeal amyloidosis and intravenous Ig-responsive polyneuropathy associated with the Ala25Thr transthyretin gene mutation. |
| Journal | Formal name：Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis Abbreviation：Amyloid ISSN code：13506129/13506129 |
| Domestic / Foregin | Domestic |
| Volume, Issue, Page | 13(1),pp.37-41 |
| Author and coauthor | Shimizu Yuko†*, Takeuchi Megumi, Matsumura Miyuki, Tokuda Takahiko, Iwata Makoto |
| Authorship | Lead author,Corresponding author |
| Publication date | 2006/03 |
| Summary | 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 |