A Swiss frontotemporal dementia (FTD) kindred with extrapyramidal-like features and without motor neuron disease shows a brain pathology with ubiquitin-positive but tau-negative inclusions. Tau and neurofilament modifications are now studied here in three recently deceased family members. No major and specific decrease of tau was observed as described by others in, e.g., sporadic cases of FTD with absence of tau-positive inclusions. However, a slight decrease of tau, neurofilament, and synaptic proteins, resulting from frontal atrophy was detected. In parallel, polymorphic markers on chromosome 17q21-22, the centromeric region of chromosome 3 and chromosome 9, were tested. Haplotype analysis showed several recombination events for chromosomes 3 and 17, but patients shared a haplotype on chromosome 9q21-22. However as one of the patients exhibited Alzheimer and vascular dementia pathology with uncertain concomitant FTD, this locus is questionable. Altogether, these data indicate principally that the Swiss kindred is unlinked to locus 17q21-22, and that tau is not at the origin of FTD in this family.

Frontotemporal dementia with parkinsonism, Haplotype analysis, Neurofilament, Tau, Ubiquitin
dx.doi.org/10.1016/S0969-9961(02)00011-6, hdl.handle.net/1765/61760
Neurobiology of Disease
Department of Clinical Genetics

Savioz, A, Riederer, B, Heutink, P, Rizzu, P, Tolnay, M, Kövari, E, … Leuba, G. (2003). Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22. Neurobiology of Disease, 12(1), 46–55. doi:10.1016/S0969-9961(02)00011-6