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Prevalence of frontotemporal lobar degeneration in an isolated population: the Vallecamonica study


, : Prevalence of frontotemporal lobar degeneration in an isolated population: the Vallecamonica study. Neurological Sciences 33(4): 899-904

The study of neurodegenerative diseases, such as frontotemporal lobar degeneration (FTLD), in isolated populations represents a privileged point of view for identifying new causative genes and pathogenetic mechanisms. Vallecamonica is a valley located in the Brescia province (Northern Italy), which experienced isolation until the end of World War II. The aims of the present work were (1) to estimate the prevalence of FTLD in Vallecamonica, to determine the monogenic FTLD forms, and to identify FTLD cases with no evidence of known pathogenetic mutations and the related clinical features. Patients meeting current clinical criteria for FTLD were considered. Mutation analysis for microtubule associated protein tau (MAPT) and progranulin (PGRN) genes was performed, as well as serum PGRN dosage. On the census day, 42 FTLD patients were alive, resulting in an overall disease prevalence of 35 per 1 inhabitants. Thirty-one out of 42 patients underwent sequencing analysis. Five patients carried PGRN Thr272fs mutation and one patient MAPT P31L mutation. There were no differences in term of age at onset and gender between this group and mutation carriers, but the latter had greater family history for dementia (1%, P = .1). In Vallecamonica, we detected a higher prevalence of FTLD compared with that already reported in other populations. A founder effect or a genetic drift might be considered for an allelic enrichment. Ongoing study aims to identify the presence of a new genetic form in those FTLD patients without known pathogenetic mutations in this isolated population.

US$19.90

PMID: 22127750

DOI: 10.1007/s10072-011-0865-0


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Brada, L., 1934: Development of grass seed production in Valassko. The author reviews the successful activities of the Branch Station for Herbage and Forage Plants at Roznov (see Herb. Abstr. 4. 103. 1934) and announces a further increase of about 300 in the number of grass seed propagators in the year 1934. The...

Siren, A.; Rantala, H.; Nuutila, A.; Eriksson, K.; Saarenpaa Heikkila, O.; Koivikko, M.; Pandolfo, M., 2002: New Finnish families with genetic epilepsy. Neurology 58(7 Supplement 3): A257, April 9

Casiglia, E.; Pizziol, A.; Tikhonoff, V.; Mazza, A.; D.M.nza, G.; Palatini, P.; Gambino, A.; Cerutti, A.; Pessina, A.C.; Casarotto, D., 2000: The 24-hour rhythm of blood pressure differs from that of leg hemodynamics in orthotopic heart transplant recipients. Background: This study was aimed at investigating whether a circadian rhythm of peripheral resistance exists in patients with orthotopic cardiac transplantation (OCT) and whether it parallels that of blood pressure (BP). Methods: BP and leg flow a...

Zinovev, VI., 1985: Birds of the forest zone of the European part of the USSR Coraciiformes, Piciformes, Caprimulgiformes, Apodiformes. Unknown

Singh, A.J., 1994: Record-keeping in India. World Health Forum 15(2): 180-180

Yeo, M., 2012: Do FPs agree on what professionalism is?: yes. Canadian Family Physician Medecin de Famille Canadien 55(10): 968-70, 972-4

Fishman, R.A.; Chan, P.H., 1981: Hypothesis: membrane phospholipid degradation and polyunsaturated fatty acids play a key role in the pathogenesis of brain edema. Transactions of the American Neurological Association 106: 58-61

Zemanová, Z.; Pácha, J., 1996: Corticosteroid induction of renal and intestinal K(+)-dependent p-nitrophenylphosphatase in young and adult rats. The post-natal development of the K(+)-dependent p-nitrophenylphosphatase (K-NPPase) activity of the Na, K-ATPase complex and its regulation by corticosteroids was studied in renal and intestinal epithelia of the rat using the p-nitrophenylphospha...

Køllgaard, T.; Duval, L.; Schmidt, H.; Kaltoft, K.; Seremet, T.; Andersen, M.Hald.; Maase, H.von.der.; Straten, P.thor.; Hadrup, S.R., 2009: Longitudinal immune monitoring of patients receiving intratumoral injection of a MART-1 T-cell receptor-transduced cell line (C-Cure 709). Adoptive transfer of tumor-specific lymphocytes is a promising strategy in the treatment of cancer. We conducted intratumoral administration of an allogeneic irradiated continuous T-cell line (C-Cure 709) expressing an HLA-A2-restricted MART-1-spe...

Butterton, J.R.; Calderwood, S.B., 1995: Vibrio cholerae O1. Blaser, M J [Editor], Smith, P D [Editor], Ravdin, J I [Editor], Greenberg, H/ B [Editor], Guerrant, R L [Editor] Infections of the gastrointestinal tract 649-670