転倒発作と反復する一過性の言語障害を呈したY69H (p.Y89H)変異型遺伝性トランスサイレチン髄膜アミロイドーシスの1例
Author:
Affiliation:
1. Department of Neurology, NHO Nishiniigata Chuo Hospital
2. Department of Pathology, Brain Research Institute, Niigata University
3. Department of Orthopedic Surgery, Niigata University School of Medicine
Publisher
Societas Neurologica Japonica
Subject
Neurology (clinical)
Link
https://www.jstage.jst.go.jp/article/clinicalneurol/63/10/63_cn-001852/_pdf
Reference16 articles.
1. 1) Blevins G, Macaulay R, Harder S, et al. Oculoleptomeningeal amyloidosis in large kindred with a new transthyretin variant Tyr69His. Neurology 2003;60:1625-1630.
2. 2) Schweitzer K, Ehmann D, Garcia R, et al. Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His. Can J Ophthalmol 2009;44:317-319.
3. 3) Suhr OB, Andersen O, Aronsson T, et al. Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden. Amyloid 2009;16:208-214.
4. 4) Ziskin JL, Greicius MD, Zhu W, et al. Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. Acta Neuropathologica Communications 2015;3:43.
5. 5) Yamada Y, Fukushima T, Kodama S, et al. A case of cerebral amyloid angiopathy-type hereditary ATTR amyloidosis with Y69H (p.Y89H) variant displaying transient focal neurological episodes as the main symptom. Amyloid 2019;26:251-252.
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