1999
DOI: 10.1002/1531-8249(199906)45:6<704::aid-ana4>3.0.co;2-x
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From genotype to phenotype: A clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation

Abstract: Frontotemporal dementia is a heterogeneous, often inherited disorder that typically presents with the insidious onset of behavioral and personality changes. Two genetic loci have been identified and mutations in tau have been causally implicated in a subset of families linked to one of these loci on chromosome 17q21‐22. In this study, linkage analysis was performed in a large pedigree, the MN family, suggesting chromosome 17q21‐22 linkage. Mutational analysis of the tau coding region identified a C‐to‐T change… Show more

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Cited by 126 publications
(93 citation statements)
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“…Frontal-executive dysfunction was commonly found. On the other hand, parkinsonism was described in only one patient and it was not the main symptom [21].…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Frontal-executive dysfunction was commonly found. On the other hand, parkinsonism was described in only one patient and it was not the main symptom [21].…”
Section: Discussionmentioning
confidence: 99%
“…The predominant symptoms were aggressive behavior and disinhibition, which were typical clinical features of this mutation. Parkinsonism as a prominent symptom is known to be rare in P301L mutation [3,13,18,21,30]. Here we describe another but unusual patient with P301L mutation whose initial and predominant clinical feature was parkinsonism.We also describe contrasting genotypes of the tau gene in these two phenotypically distinct patients with P301L mutation.…”
Section: Introductionmentioning
confidence: 93%
“…1) [11][12][13][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37]. Missense mutations are located in the microtubule-binding repeat region or close to it.…”
Section: Tau Mutationsmentioning
confidence: 99%
“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with VaD and caused by mutations on the notch 3 gene [18]. Approximately 10% of AD cases are thought to be genetically determined whereas 20-50% of all cases of FTD are estimated to be caused by gene mutations transmitted in an autosomal dominant fashion [19]. It is also clear that other cases with a strong family history of dementia exist without the known mutations.…”
Section: Familial Dementiamentioning
confidence: 99%