Progranulin mutations in Dutch familial frontotemporal lobar degeneration
EUROPEAN JOURNAL OF HUMAN GENETICS
Authors: Bronner, Iraad F.; Rizzu, Patrizia; Seelaar, Harro; van Mil, Saskia E.; Anar, Burcu; Azmani, Asma; Kaat, Laura Donker; Rosso, Sonia; Heutink, Peter; van Swieten, John C.
Abstract
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.
Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis
NEUROBIOLOGY OF DISEASE
Authors: Hakkinen, Suvi; Chu, Stephanie A.; Lee, Suzee E.
Abstract
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) have a strong clinical, genetic and pathological overlap. This review focuses on the current understanding of structural, functional and molecular neuroimaging signatures of genetic FTD and ALS. We overview quantitative neuroimaging studies on the most common genes associated with FTD (MAPT, GRN), ALS (SOD1), and both (C9orf72), and summarize visual observations of images reported in the rarer genes (CHMP2B, TARDBP, FUS, OPTN, VCP, UBQLN2, SQSTM1, TREM2, CHCHD10, TBK1).