Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene: pedigree but not mutation specific age at onset provides evidence for a further genetic factor

Fox, NC, Kennedy, AM, Harvey, Richard J, Lantos, PL, Roques, PK, Collinge, J, Hardy, J, Hutton, M, Stevens, JM, Warrington, EK and Rossor, MN 1997, Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene: pedigree but not mutation specific age at onset provides evidence for a further genetic factor, Brain, vol. 120, no. 3, pp. 491-501, doi: 10.1093/brain/120.3.491.

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Title Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene: pedigree but not mutation specific age at onset provides evidence for a further genetic factor
Author(s) Fox, NC
Kennedy, AM
Harvey, Richard JORCID iD for Harvey, Richard J orcid.org/0000-0001-7796-0059
Lantos, PL
Roques, PK
Collinge, J
Hardy, J
Hutton, M
Stevens, JM
Warrington, EK
Rossor, MN
Journal name Brain
Volume number 120
Issue number 3
Start page 491
End page 501
Total pages 11
Publisher Oxford University Press
Place of publication Oxford, Eng.
Publication date 1997-03
ISSN 0006-8950
Keyword(s) Alzheimer’s disease
familial
chromosome 14
presenilin
early onset
age at onset
Summary Sixteen affected individuals are described from two families with early onset autosomal dominant familial Alzheimer's disease. A mutation at codon 139 in the presenilin 1 gene on chromosome 14 results in a methionine to valine substitution which cosegregates with the disease in these families. Onset of dementia was before the age of 50 years in all individuals. The ages at onset within each family were tightly clustered but were significantly different between the families; this difference could not be accounted for by apolipoprotein E status and suggests the existence of a further genetic factor that modifies age at disease onset. The pattern of cognitive decline was similar in both families: early memory loss (initially selective for verbal memory in some individuals) was followed soon after by loss of arithmetic skills while naming and object perception skills were relatively preserved. A speech production deficit was observed in three members of one family but not in the other. Seizures were common and usually predated by myoclonic jerks by a number of years. Serial MRIs showed progressive cortical atrophy with periventricular white matter change appearing 3-4 years into the disease. PET revealed parieto-temporal hypometabolism in all individuals scanned. The diagnosis of Alzheimer's disease was confirmed with typical histopathology in one individual from each family.
Language eng
DOI 10.1093/brain/120.3.491
Indigenous content off
Field of Research 11 Medical and Health Sciences
17 Psychology and Cognitive Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©1997, Oxford University Press
Persistent URL http://hdl.handle.net/10536/DRO/DU:30127958

Document type: Journal Article
Collections: Faculty of Health
School of Medicine
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