Affiliation: King's College London
- Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutationStuart Pickering-Brown
Institute of Psychiatry, Section of Old Age Psychiatry, Denmark Hill, London, United Kingdom
Am J Med Genet B Neuropsychiatr Genet 125:79-82. 2004..Furthermore, this single large pedigree may be of use in the identification of disease modifying loci in FTD...
- The tau gene locus and frontotemporal dementiaStuart Pickering-Brown
Institute of Psychiatry, London, UK
Dement Geriatr Cogn Disord 17:258-60. 2004..The role of the tau locus and tau accumulation in contributing to the neurodegenerative process in chromosome-17-linked families without mutations and in families with tau mutations without insoluble tau is discussed...
- Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's diseaseVictoria Busby
Department of Neuroscience, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, United Kingdom
Neuromolecular Med 5:133-46. 2004..None of these SNPs was associated with disease. Although an excellent candidate, we conclude that CTNNA3 is unlikely to account for the AD susceptibility locus on chromosome 10...
- Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer diseaseMark Doran
Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Lower Lane, Liverpool L9 7LJ, England
Arch Neurol 64:1535-9. 2007....
- Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotypeIan R A Mackenzie
Department of Pathology, Vancouver General Hospital, V5Z 1M9, Vancouver, BC, Canada
Acta Neuropathol 112:539-49. 2006....
- The effect of tau genotype on clinical features in FTDP-17Yasuhiko Baba
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Parkinsonism Relat Disord 11:205-8. 2005..7; 95% confidence interval, 1.4-98.7; P=0.008). Our results suggest that tau genotype does not influence the disease course. However, it may predispose to a specific clinical sign in the early stage of FTDP-17...
- Tau haplotype frequency in frontotemporal lobar degeneration and amyotrophic lateral sclerosisAlun Hughes
Division of Neuroscience, University of Manchester, 1 124 Stopford Building, Oxford Road, Manchester M13 9PT, UK
Exp Neurol 181:12-6. 2003..These data are consistent with the hypothesis that the tau gene, or nearby gene on the H1 haplotype, is a risk factor for frontotemporal dementia...
- Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTDParastoo Momeni
Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD, USA
BMC Neurol 6:44. 2006..A new locus for amyotrophic lateral sclerosis--frontotemporal dementia (ALS-FTD) has recently been ascribed to chromosome 9p...
- Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43Yong Jie Zhang
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA
J Neurosci 27:10530-4. 2007..Altered cleavage and redistribution of TDP-43 in cell culture models are similar to findings in FTLD-U and ALS. The results suggest that abnormal metabolism of TDP-43 mediated by progranulin may play a pivotal role in neurodegeneration...
- Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43Yvonne Davidson
Clinical Neuroscience Research Group, Division of Medicine and Neuroscience, Greater Manchester Neurosciences Centre, Hope Hospital, University of Manchester, Salford, M6 8HD, UK
Acta Neuropathol 113:521-33. 2007..We conclude that the UBQ-ir lesions of FTLD and MND are defined by the presence of TDP-43, and that these disorders can be subsumed into a single disease entity under the umbrella of TDP-43 proteinopathy...
- The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin geneIan R A Mackenzie
Department of Pathology and Laboratory Medicine, University of British Columbia and Vancouver Coastal Health Vancouver, BC, Canada
Brain 129:3081-90. 2006..These findings suggest that FTD caused by PGRN mutations has a recognizable pathology with the most characteristic feature being ub-ir NII...
- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)Zbigniew K Wszolek
Department of Neurology, Mayo Clinic, FL, USA
Orphanet J Rare Dis 1:30. 2006..The prognosis and rate of the disease's progression vary considerably among individual patients and genetic kindreds, ranging from life expectancies of several months to several years, and, in exceptional cases, as long as two decades...
- Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlationJing Shi
Clinical Neuroscience Research Group, University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital, Stott Lane, Salford M6 8HD, UK
Acta Neuropathol 110:501-12. 2005....
- Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matterVictoria Zhukareva
Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, University of Pennsylvania, 3600 Spruce Street, Philadelphia, PA 19104 4283, USA
Ann Neurol 51:730-9. 2002....