Document Type

Article

Publication Date

5-2014

Publication Title

Journal of Alzheimer's Disease

Volume

39

Issue

1

Publisher

IOS Press

Abstract

Whole exome sequencing in a family with suspected dominant Kufs disease identified a novel Presenilin 1 mutation p.Leu(381)Phe in three brothers who, along with their father, developed progressive dementia and motor deficits in their early 30s. All affected relatives had unusually rapid disease progression (on average 3.6 years from disease onset to death). In silico analysis of mutation p.Leu(381)Phe predicted more detrimental effects when compared to the common Presenilin 1 mutation p.Glu(280)Ala. Electron microscopy study of peripheral fibroblast cells of the proband showed lysosomal inclusions typical for Kufs disease. However his brain autopsy demonstrated typical changes of Alzheimer disease.

Comments

This manuscript has been published in the Journal of Alzheimer's Disease. Please find the published version here (note that a subscription is necessary to access this version):

http://iospress.metapress.com/content/105656/?p=87d7d8487e514b21ac1e7ff9e81f7031&pi=0

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