Frontotemporal dementia and parkinsonism linked

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. 

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. 

FTDP-17 frontotemporal dementia and parkinsonism linked to chromosome 17... 

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

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