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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

• Marc Cruts, Ilse Gijselinck, +19 authors Christine Van Broeckhoven
• Nature
• 2006

Frontotemporal dementia (FTD) with ubiquitin-immunoreactive neuronal inclusions (both cytoplasmic and nuclear) of unknown nature has been linked to a chromosome 17q21 region (FTDU-17) containing MAPT… (More)

alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

• Philippe Pals, Sarah R Lincoln, +9 authors Matthew John Farrer
• Annals of neurology
• 2004

Familial Parkinson's disease (PD) has been linked to missense and genomic multiplication mutations of the alpha-synuclein gene (SNCA). Genetic variability within SNCA has been implicated in… (More)

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.

• Julie van der Zee, Hazel Urwin, +11 authors Christine Van Broeckhoven
• Human molecular genetics
• 2008

The charged multivesicular body protein 2B gene (CHMP2B) was recently associated with frontotemporal lobar degeneration (FTLD) linked to chromosome 3 in a Danish FTLD family (FTD-3). In this family,… (More)

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.

• Rosa Rademakers, Stacey Melquist, +24 authors Michael L. Hutton
• Human molecular genetics
• 2005

Two extended haplotypes exist across the tau gene-H1 and H2-with H1 consistently associated with increased risk of progressive supranuclear palsy (PSP). Using 15 haplotype tagging SNPs (htSNPs),… (More)

Progranulin null mutations in both sporadic and familial frontotemporal dementia.

• Isabelle le Ber, Julie van der Zee, +21 authors Alexis Brice
• Human mutation
• 2007

Frontotemporal dementia (FTD) is the second most frequent type of neurodegenerative dementias. Mutations in the progranulin gene (GRN, PGRN) were recently identified in FTDU-17, an FTD subtype… (More)

Progranulin genetic variability contributes to amyotrophic lateral sclerosis.

• Kristel Sleegers, Niels Brouwers, +14 authors Christine Van Broeckhoven
• Neurology
• 2008

OBJECTIVES Null mutations in progranulin (PGRN) cause ubiquitin-positive frontotemporal dementia (FTD) linked to chromosome 17q21 (FTDU-17). Here we examined PGRN genetic variability in amyotrophic… (More)

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

• Nathalie Brouwers, Karen Nuytemans, +23 authors Kristel Sleegers
• Archives of neurology
• 2007

BACKGROUND Progranulin gene (PGRN) haploinsufficiency was recently associated with ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17q21 (FTLDU-17). OBJECTIVE To assess… (More)

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS.

• Ilse Gijselinck, Kristel Sleegers, +14 authors Marc Cruts
• Neurobiology of aging
• 2009

The nuclear TAR DNA binding protein (TDP-43) is deposited in ubiquitin-positive inclusions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two clinicopathologically… (More)

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

• Julie van der Zee, Isabelle le Ber, +23 authors Christine Van Broeckhoven
• Human mutation
• 2007

Null mutations in the progranulin gene (GRN, PGRN) were recently identified as the causal mechanism underlying frontotemporal dementia (FTD) with ubiquitin-positive brain pathology linked to… (More)

Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease.

• Jessie Theuns, Nathalie Brouwers, +7 authors Christine Van Broeckhoven
• American journal of human genetics
• 2006

Genetic variations in promoter sequences that alter gene expression play a prominent role in increasing susceptibility to complex diseases. Also, expression levels of APP are essentially regulated by… (More)

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