与早老素1突变相关的早发型家族性阿尔茨海默病，类似常染色体显性遗传性脊髓小脑共济失调。 - Suppr

Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia.

作者信息

Braga-Neto Pedro, Pedroso José Luiz, Alessi Helena, de Souza Paulo Victor Sgobbi, Bertolucci Paulo Henrique Ferreira, Barsottini Orlando Graziani Povoas

出版信息

J Neurol. 2013 Apr;260(4):1177-9. doi: 10.1007/s00415-013-6879-1. Epub 2013 Mar 13.

DOI:10.1007/s00415-013-6879-1

PMID:23483213

Abstract

摘要

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Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia.

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A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: clinical, neuroimaging, and neuropathological findings.

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J Alzheimers Dis. 2012;32(1):1-12. doi: 10.3233/JAD-2012-120907.

Early-onset familial Alzheimer's disease (EOFAD).

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The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.

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Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia.

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