Publication
Title
Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimers disease, spastic paraparesis, and extrapyramidal signs
Author
Abstract
We describe the phenotype of a Bulgarian early-onset Alzheimers disease (EOAD) family with 3 affected patients in 3 generations. In the proband, a novel L381V mutation in the presenilin1 (PSEN1) gene was identified. In this patient, the first symptoms were noticed at the age of 32 years and she died at the age of 37 years. The EOAD phenotype caused by the novel L381V mutation in the PSEN1 gene presented clinically, by a very early onset in the proband, rapid progression of dementia, spastic paraparesis, and extrapyramidal signs, as atypical clinical signs in Alzheimers disease patients.
Language
English
Source (journal)
American journal of Alzheimer's disease and other dementias. - Place of publication unknown
Publication
Place of publication unknown : 2009
ISSN
1533-3175
Volume/pages
24:5(2009), p. 404-407
ISI
000270454100006
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 28.11.2009
Last edited 17.09.2017
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