Mutations in the progranulin (PGRN) gene have recently been identified in frontotemporal lobar degeneration with ubiquitin inclusions linked to chromosome 17q21. We report here the finding of two novel frameshift mutations and three possible pathogenic missense mutations in the PGRN gene. Furthermore, we determined the frequency of PGRN mutations in familial cases recruited from a large population-based study of frontotemporal lobar degeneration carried out in The Netherlands.

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Journal European Journal of Human Genetics
Bronner, I.F, Rizzu, P, Seelaar, H, van Mil, S.E, Anar, B, Azmani, A, … van Swieten, J.C. (2007). Progranulin mutations in Dutch familial frontotemporal lobar degeneration. European Journal of Human Genetics, 15(3), 369–374. doi:10.1038/sj.ejhg.5201772