PMID- 10447269
OWN - NLM
STAT- MEDLINE
DCOM- 19990921
LR  - 20061115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 1
DP  - 1999
TI  - A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a
      Japanese family with presenile familial Alzheimer's disease. Mutation in brief
      no. 254. Online.
PG  - 90
AB  - Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported
      in families with presenile familial Alzheimer's disease (FAD). We describe a
      novel missense mutation (G209R) within the predicted fourth transmembrane domain 
      of the PSEN1 in a Japanese family with presenile FAD. The affected cases showed
      similar disease histories with the mean age at onset of 49.6 +/- 3.1 years and
      rapid progressive dementia characterized by memory impairment, amnestic aphasia, 
      disorientation and personality change, but lacking parietal focal symptoms such
      as apraxia or agnosia. Compared with the previously reported cases of same Gly209
      mutation (G209V), the clinical features of the G209R-FAD cases appear to be less 
      critical than those of G209V-FAD cases, although the Gly to Arg mutation is
      considered to be less conservative than the Gly to Val mutation. These findings
      may suggest the possible existence of other genetic and/or environmental factors 
      or the possibility that these two different Gly209 mutations may underlie
      different pathomechanisms in the development of presenile FAD.
FAU - Sugiyama, N
AU  - Sugiyama N
AD  - Department of Psychiatry, Yokohama City University School of Medicine, Yokohama, 
      Japan.
FAU - Suzuki, K
AU  - Suzuki K
FAU - Matsumura, T
AU  - Matsumura T
FAU - Kawanishi, C
AU  - Kawanishi C
FAU - Onishi, H
AU  - Onishi H
FAU - Yamada, Y
AU  - Yamada Y
FAU - Iseki, E
AU  - Iseki E
FAU - Kosaka, K
AU  - Kosaka K
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  - Exons/*genetics
MH  - Humans
MH  - Japan
MH  - Membrane Proteins/*genetics
MH  - Middle Aged
MH  - *Mutation, Missense
MH  - Presenilin-1
EDAT- 1999/08/14 10:00
MHDA- 2000/06/22 10:00
CRDT- 1999/08/14 10:00
PHST- 1999/08/14 10:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/08/14 10:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)14:1<90::AID-HUMU19>3.0.CO;2-S [pii]
AID - 10.1002/(SICI)1098-1004(1999)14:1<90::AID-HUMU19>3.0.CO;2-S [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(1):90. doi:
      10.1002/(SICI)1098-1004(1999)14:1<90::AID-HUMU19>3.0.CO;2-S.