We have previously reported a large Danish pedigree with autosomal dominant
frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation …

Background Frontotemporal dementia (FTD) is a complex disorder characterised by a broad
range of clinical manifestations, differential pathological signatures, and genetic variability …

Background Alzheimer's disease (AD) is the most common type of dementia, affecting one in
eight adults over 65 years of age. The majority of AD cases are sporadic, with unknown …

Background Loss-of-function mutations in GRN cause frontotemporal lobar degeneration
(FTLD). Patients with GRN mutations present with a uniform subtype of TAR DNA-binding …

A de novo α-synuclein A53T (p. Ala53 Th; c. 209G> A) mutation has been identified in a
Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals …

Mutations in the charged multivesicular body protein 2B (CHMP2B) cause frontotemporal
dementia (FTD). We report that mice which express FTD-causative mutant CHMP2B at …

Alfacalcidol and paricalcitol are vitamin D analogs used for the treatment of secondary
hyperparathyroidism in patients with chronic kidney disease, but have known dose …

The truncated mutant form of the charged multivesicular body protein 2B (CHMP2B) is
causative for frontotemporal dementia linked to chromosome 3 (FTD3). CHMP2B is a …

Summary Frontotemporal dementia type 3 (FTD3), caused by a point mutation in the
charged multivesicular body protein 2B (CHMP2B), affects mitochondrial ultrastructure and …

Frontotemporal dementia (FTD) is amongst the most prevalent early onset dementias and
even though it is clinically, pathologically and genetically heterogeneous, a crucial …