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rdf:type |
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|
lifeskim:mentions |
|
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pubmed:issue |
11
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pubmed:dateCreated |
2004-11-9
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pubmed:abstractText |
Early-onset familial Alzheimer disease is caused by mutations in the amyloid precursor protein (APP), presenilin-1 (PSEN1), or presenilin-2 (PSEN2) genes. Phenotypic diversity has been reported to be associated with various mutations in PSEN1. Various mutations of PSEN1 have been reported in cases of early-onset Alzheimer disease with spastic paraparesis.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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|
pubmed:month |
Nov
|
|
pubmed:issn |
0003-9942
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
61
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1773-6
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:15534188-Adult,
pubmed-meshheading:15534188-Age of Onset,
pubmed-meshheading:15534188-Alzheimer Disease,
pubmed-meshheading:15534188-Amyloid beta-Peptides,
pubmed-meshheading:15534188-DNA Mutational Analysis,
pubmed-meshheading:15534188-Humans,
pubmed-meshheading:15534188-Male,
pubmed-meshheading:15534188-Membrane Proteins,
pubmed-meshheading:15534188-Paraparesis, Spastic,
pubmed-meshheading:15534188-Point Mutation,
pubmed-meshheading:15534188-Presenilin-1,
pubmed-meshheading:15534188-Vision Disorders
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|
pubmed:year |
2004
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|
pubmed:articleTitle |
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.
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pubmed:affiliation |
Department of Neurology, Osaka City University Medical School, Osaka, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports
|
