PMID- 10090481
OWN - NLM
STAT- MEDLINE
DCOM- 19990713
LR  - 20191103
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 3
DP  - 1999
TI  - Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's
      disease in the UK. Mutations in brief no. 223. Online.
PG  - 256
AB  - Familial Alzheimer's disease (AD) is an autosomal dominant disorder characterized
      by memory impairment and multiple cognitive deficits which occurs in mid to late 
      life. Early onset AD has been associated with mutations in three genes, of which 
      presenilin 1 (PS1) mutations are the most frequent. We sequenced the open reading
      frame from genomic DNA of a series of 21 early onset AD (AD3) UK families in
      which there were at least two affected individuals in two or more generations
      with a diagnosis of probable or definite AD. We found PS1 mutations in six of
      these families with no sequence variation in the remaining 15. The six families
      contained between them five different mutations of which two, I143F and P436S,
      have not been found elsewhere. I143F shows incomplete penetration within the
      affected family. P436S is the most carboxy-terminal presenilin 1 mutation
      reported to date.
FAU - Palmer, M S
AU  - Palmer MS
AD  - Molecular Genetics, Biomedical Sciences Division, Imperial College School of
      Medicine, London, UK.
FAU - Beck, J A
AU  - Beck JA
FAU - Campbell, T A
AU  - Campbell TA
FAU - Humphries, C B
AU  - Humphries CB
FAU - Roques, P K
AU  - Roques PK
FAU - Fox, N C
AU  - Fox NC
FAU - Harvey, R
AU  - Harvey R
FAU - Rossor, M N
AU  - Rossor MN
FAU - Collinge, J
AU  - Collinge J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Membrane Proteins)
RN  - 0 (PSEN1 protein, human)
RN  - 0 (Presenilin-1)
SB  - IM
MH  - Alzheimer Disease/*genetics
MH  - Humans
MH  - Membrane Proteins/*genetics
MH  - Mutation
MH  - Presenilin-1
MH  - United Kingdom
EDAT- 1999/03/25 03:02
MHDA- 2000/06/22 10:00
CRDT- 1999/03/25 03:02
PHST- 1999/03/25 03:02 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/03/25 03:02 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU11>3.0.CO;2-P [pii]
AID - 10.1002/(sici)1098-1004(1999)13:3<256::aid-humu11>3.0.co;2-p [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(3):256. doi:
      10.1002/(sici)1098-1004(1999)13:3<256::aid-humu11>3.0.co;2-p.