Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

Suzanne Granhøj Lindquist, Jørgen Erik Nielsen, Jette Stokholm, Marianne Schwartz, Mustafa Batbayli, Martin Ballegaard, Jesper Erdal, Katja Krabbe, Gunhild Waldemar

20 Citationer (Scopus)

Abstract

Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features.
OriginalsprogEngelsk
TidsskriftJournal of the Neurological Sciences
Vol/bind268
Udgave nummer1-2
Sider (fra-til)124-30
Antal sider7
ISSN0022-510X
DOI
StatusUdgivet - 2008

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