Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 m...
Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile)
About this item
Full title
Author / Creator
SODEYAMA, N , IWATA, T , ISHIKAWA, K , MIZUSAWA, H , YAMADA, M , ITOH, Y , OTOMO, E , MATSUSHITA, M and KOMATSUZAKI, Y
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
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Scope and Contents
Contents
[...]mutation in PS1 is the most popular genetic cause of familial Alzheimer's disease (FAD) and all mutations except Glu318Gly are responsible for early onset Alzheimer's disease. 8 Glu318Gly is a frequent polymorphism which is found in 3.3% of the general population. 8 To exclude the possibility that Phe237Ile is a polymorphism in a Japanese popu...
Alternative Titles
Full title
Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile)
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1763524
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1763524
Other Identifiers
ISSN
0022-3050
E-ISSN
1468-330X
DOI
10.1136/jnnp.71.4.556
