|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0008659,
umls-concept:C0015576,
umls-concept:C0026882,
umls-concept:C0205210,
umls-concept:C0208973,
umls-concept:C0242422,
umls-concept:C0314603,
umls-concept:C0338451,
umls-concept:C1517892,
umls-concept:C1704666,
umls-concept:C1720655,
umls-concept:C1947974,
umls-concept:C2348519,
umls-concept:C2700455
|
|
pubmed:issue |
7
|
|
pubmed:dateCreated |
2007-6-27
|
|
pubmed:abstractText |
In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a P301S tau mutation, the predominant phenotype was frontotemporal dementia in 3 and parkinsonism in 6. Comparison of the tau genotype/haplotype carrying the mutation and the initial clinical sign showed association between H1/H1 and parkinsonism and between H1/H2 and personality change. Thus, the tau haplotype carrying the mutation and the tau genotype may be related to the clinical phenotype throughout the disease course.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jul
|
|
pubmed:issn |
1435-1463
|
|
pubmed:author |
pubmed-author:BabaYY,
pubmed-author:BakerM CMC,
pubmed-author:BriceAA,
pubmed-author:BugianiOO,
pubmed-author:FarrerM JMJ,
pubmed-author:GhettiBB,
pubmed-author:HutsonL RLR,
pubmed-author:KohlhaseJJ,
pubmed-author:Le BerII,
pubmed-author:MaeckLL,
pubmed-author:SperfeldA DAD,
pubmed-author:StoppeGG,
pubmed-author:TsuboiYY,
pubmed-author:UittiR JRJ,
pubmed-author:WszolekZ KZK,
pubmed-author:YasudaMM
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
114
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
947-50
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:17318302-Adult,
pubmed-meshheading:17318302-Chromosomes, Human, Pair 17,
pubmed-meshheading:17318302-Female,
pubmed-meshheading:17318302-Frontotemporal Lobar Degeneration,
pubmed-meshheading:17318302-Genetic Linkage,
pubmed-meshheading:17318302-Genotype,
pubmed-meshheading:17318302-Haplotypes,
pubmed-meshheading:17318302-Humans,
pubmed-meshheading:17318302-Male,
pubmed-meshheading:17318302-Mutation,
pubmed-meshheading:17318302-Parkinsonian Disorders,
pubmed-meshheading:17318302-Young Adult,
pubmed-meshheading:17318302-tau Proteins
|
|
pubmed:year |
2007
|
|
pubmed:articleTitle |
Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation.
|
|
pubmed:affiliation |
Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA.
|
|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, N.I.H., Extramural
|
