Frontotemporal dementia chromosome

Frontotemporal dementia with parkinsonism linked to chromosome 17 660... 

Hosier, B. A., Siddique, T., Sapp, P. C. etal. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. J.A.M.A. 284 1664-1669,2000. 

Frontotemporal dementias occur as familial forms and, more commonly, as sporadic diseases. They are characterized by a remarkably circumscribed atrophy of the frontal and temporal lobes of the cerebral cortex, often with additional, subcortical changes. In 1994, an autosomal-dominantly inherited form of frontotemporal dementia with parkinsonism was linked to chromosome 17q21.2. Subsequently, other forms of frontotemporal dementia were linked to this region, resulting in the denomination frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) for this class of disease. All cases of FTDP-17 have so far shown a filamentous pathology made of hyperphosphorylated tau protein (Fig. 45-7). In 1998, mutations in tau were reported in FTDP-17 patients [29-31]. Since then, more than 30 different mutations have been described in over 80 families with FTDP-17 (Fig. 45-6). 

Van Swieten, J.C., Rosso, S.M., van Herpen, E., Kamphorst, W., Ravid, R., Heutink, P. (2004) Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17. Dement. Geriatr. Cogn. Disord., 17, 261-264. 

Ghetti, B., Hutton, M. and Wszolek, Z. (2003) Frontotemporal Dementia and Parkinsonism Linked to chromosome 17 associated with Tau gene mutations (FTDP-17 T), in Neurodegeneration The molecular pathology of dementia and movement disorders (Dickson, D., ed.). ISN Neuropath Press, Basel, pp. 81-155. 

Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., et al. (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature442, 916-919. 

Varani, L., et al (1999). Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Natl. Acad. Sci. USA 96, 8229—8234. 

Alzheimer s Disease (AD) and Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17 (FTDP-17)... 

D Souza I, Poorkaj P, Hong M, NocUin D, Lee VM et si (1999) Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Nad Acad Sci USA 96 5598-5603... 

Gijsehnck I, Bogaerts V, Rademakers R, van der ZJ, Van Broeckhoven C, Cruts M (2006) Visualization of MART inversion on stretched chromosomes of tau-negative frontotemporal dementia patients. Hum Mutat 27 1057-1059. 

Kovach Ml, Waggoner B, Leal SM et al. (2001) Clinical debneation and localization to chromosome 9pl3.3-pl2 of a unique dominant disorder in four families hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab 74(4), 458-475. 

Rosso SM, Kamphorst W, de Graaf B et al. (2001) Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain 124(10), 1948-1957. 

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