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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2003-6-10
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pubmed:abstractText |
Frontotemporal dementia with parkinsonism linked to chromosome 17q21-22 (FTDP-17) is an autosomal dominant tauopathy manifested by a variable combination of personality changes, cognitive decline and hypokinetic-rigid movement disorder. Significant clinical and pathological heterogeneity of FTDP-17 is related in part to more than 20 different pathogenic mutations identified in the tau gene. Among others, the P301S mutation has been previously reported in three families of European and one of Japanese origin presenting with different clinical phenotypes.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0340-5354
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pubmed:author |
pubmed-author:AbramskyOdedO,
pubmed-author:BiranIftahI,
pubmed-author:BoherMosheM,
pubmed-author:EksteinDanaD,
pubmed-author:GomoriJohn MosheJM,
pubmed-author:LossosAlexanderA,
pubmed-author:MeinerZeevZ,
pubmed-author:NewmanJoel PJP,
pubmed-author:RechesAvinoamA,
pubmed-author:RosenmannHannaH,
pubmed-author:SofferDovD,
pubmed-author:TanY AYA
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pubmed:issnType |
Print
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pubmed:volume |
250
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
733-40
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12796837-Adult,
pubmed-meshheading:12796837-Algeria,
pubmed-meshheading:12796837-Cerebral Cortex,
pubmed-meshheading:12796837-DNA Mutational Analysis,
pubmed-meshheading:12796837-Dementia,
pubmed-meshheading:12796837-Family Health,
pubmed-meshheading:12796837-Female,
pubmed-meshheading:12796837-Humans,
pubmed-meshheading:12796837-Immunohistochemistry,
pubmed-meshheading:12796837-Inclusion Bodies,
pubmed-meshheading:12796837-Jews,
pubmed-meshheading:12796837-Magnetic Resonance Imaging,
pubmed-meshheading:12796837-Male,
pubmed-meshheading:12796837-Middle Aged,
pubmed-meshheading:12796837-Mutation,
pubmed-meshheading:12796837-Neurologic Examination,
pubmed-meshheading:12796837-Neuropsychological Tests,
pubmed-meshheading:12796837-Parkinsonian Disorders,
pubmed-meshheading:12796837-Pedigree,
pubmed-meshheading:12796837-Proline,
pubmed-meshheading:12796837-Serine,
pubmed-meshheading:12796837-Tomography, Emission-Computed, Single-Photon,
pubmed-meshheading:12796837-tau Proteins
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pubmed:year |
2003
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pubmed:articleTitle |
Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.
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pubmed:affiliation |
The Agnes Ginges Center for Human Neurogenetics, Dept. of Neurology, Hadassah University Hospital, POB 12000, Jerusalem 91120, Israel. ALOS@HADASSAH.ORG.IL
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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