Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2004-6-18
pubmed:abstractText
Two siblings with the R269G mutation in the presenilin-1 gene causing early-onset Alzheimer's disease are presented, only the second family with this mutation to be reported. Behavioural and psychiatric symptoms were prominent in both cases, as well as cognitive decline. Other reports of presenilin-1 gene mutations associated with behavioural and psychiatric symptoms are reviewed. The distribution of such mutations throughout the presenilin-1 gene argues against specific genotype-phenotype correlations, and suggests a role for other genetic and/or epigenetic factors in the pathogenesis of behavioural and psychiatric features in early-onset Alzheimer's disease associated with presenilin-1 gene mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0940-1334
pubmed:author
pubmed:issnType
Print
pubmed:volume
254
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
187-9
pubmed:dateRevised
2009-5-11
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation.
pubmed:affiliation
Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Lower Lane, Fazakerley, Liverpool, L9 7LJ, UK.
pubmed:publicationType
Journal Article, Case Reports