Abstract:
:Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease (AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative preservation of memory. Screening for PSEN1 mutations may be appropriate in cases of familial dementia even where the clinical phenotype is not typical of AD.
journal_name
Neurologyjournal_title
Neurologyauthors
Godbolt AK,Beck JA,Collinge J,Garrard P,Warren JD,Fox NC,Rossor MNdoi
10.1212/01.wnl.0000143060.98164.1asubject
Has Abstractpub_date
2004-11-09 00:00:00pages
1702-4issue
9eissn
0028-3878issn
1526-632Xpii
63/9/1702journal_volume
63pub_type
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