A case of frontotemporal dementia with tau P301L mutation in the Far East [1]

Journal of Neurology

Volumn 247, Issue 9, 2000, Pages 705-707

  Tanaka, Ryota ^a   Kobayashi, Tomonori ^b   Motoi, Yumiko ^a   Anno, Midori ^a   Mizuno, Yoshikuni ^b   Mori, Hideo ^b  

^a TOKYO METROPOLITAN MATSUZAWA HOSPITAL   (Japan)

^b JUNTENDO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

TAU PROTEIN; TAU PROTEIN P301L; UNCLASSIFIED DRUG;

ADULT; BRAIN ATROPHY; BRAIN TOMOGRAPHY; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; COGNITIVE DEFECT; CYTOPATHOLOGY; DETERIORATION; DISEASE DURATION; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; JAPAN; LETTER; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RACE DIFFERENCE; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

CASE REPORT; CHROMOSOMES, HUMAN, PAIR 17; DEMENTIA; FEMALE; HUMAN; MIDDLE AGE; PEDIGREE; PHENOTYPE; POINT MUTATION; TAU PROTEINS;

EID: 0033776859     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150070115     Document Type: Letter

References (13)

1. Polymerization of tau peptides into fibrillar structures. The effect of FTDP-17 mutations
2. A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
3. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17
4. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
5. Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism
6. Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments
7. Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly
8. Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: A genetic and clinicopathological study of three Dutch families
9. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17
10. Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia
11. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
12. Tau pathology in a family with dementia and a P301L mutation in tau
13. Tau is a candidate gene for chromosome 17 frontotemporal dementia