A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI

M. Aoki, K. Abe, N. Oda, M. Ikeda, T. Tsuda, M. Kanai, M. Shoji, P. H. St. George-Hyslop, Y. Itoyama

研究成果: Article

23 引用 (Scopus)

抜粋

Some patients with familial Alzheimer's disease (FAD) have mutations in the presenilin-1 (PS-1) gene on chromosome 14. We report a Japanese family with AD an Ala285Val substitution in exon 8 of the PS-1 gene. FAD in this family was characterized by relatively late onset (mean age 50 years) absence of myoclonus seizures or paratonia. Levels of tau were markedly elevated in CSF whereas CSF levels of amyloid protein were normal. MRI of the cranium showed marked linear signal abnormalities within white matter in the parieto- occipital lobes consistent with cortical amyloid angiopathy of the type encountered in patients with the PS-1 gene mutation.

元の言語English
ページ(範囲)1118-1120
ページ数3
ジャーナルNeurology
48
発行部数4
DOI
出版物ステータスPublished - 1997 4

ASJC Scopus subject areas

  • Clinical Neurology

フィンガープリント A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI' の研究トピックを掘り下げます。これらはともに一意のフィンガープリントを構成します。

  • これを引用

    Aoki, M., Abe, K., Oda, N., Ikeda, M., Tsuda, T., Kanai, M., Shoji, M., St. George-Hyslop, P. H., & Itoyama, Y. (1997). A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI. Neurology, 48(4), 1118-1120. https://doi.org/10.1212/WNL.48.4.1118