Mutation in the tau exon 10 splice site region in familial frontotemporal dementia [1]

Annals of Neurology

Volumn 45, Issue 2, 1999, Pages 270-271

  Morris, H R ^c   Perez Tur, J ^b   Janssen, J C ^c   Brown, J ^a   Lees, A J ^c   Wood, N W ^c   Hardy, J ^b   Hutton, M ^b   Rossor, M N ^c  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b MAYO CLINIC   (United States)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

TAU PROTEIN;

AMINO ACID SUBSTITUTION; CHROMOSOME 17; DEGENERATIVE DISEASE; FAMILIAL DISEASE; FAMILY STUDY; FRONTOTEMPORAL DEMENTIA; HUMAN; LETTER; MUTATION; PARKINSONISM; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY;

AGED; ALTERNATIVE SPLICING; DEMENTIA; EXONS; FRONTAL LOBE; HUMANS; MIDDLE AGED; MUTATION; TEMPORAL LOBE;

EID: 0032965787     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199902)45:2<270::AID-ANA22>3.0.CO;2-2     Document Type: Letter

References (5)

1. Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705
2. Poorkaj P, Bird TD, Wijsman E, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998; 43:815-825
3. Spillantini MG, Murrell JR, Goedert M, et al. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci 1998;95:7737-7741
4. Maillot C, Sergeant N, Bussiere T, et al. Phosphorylation of specific sets of tau isoforms reflects different neurofibrillary degeneration processes. FEBS Lett 1998;443:201-204
5. Spillantini MG, Bird TD, Ghetti B. Frontotemporal dementia and parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathol 1998;8:387-402