The behavioural variant of frontotemporal dementia (bvFTD) is a frequent cause of early-
onset dementia. The diagnosis of bvFTD remains challenging because of the limited …

Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of …

Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among
which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are …

Background Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2
(PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD …

Objective To define the role that repeat expansions of a GGGGCC hexanucleotide sequence
of the C9orf72 gene play in the pathogenesis of amyotrophic lateral sclerosis (ALS) and …

Abstract Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal
recessive ataxia. We have now identified causative mutations in 15 families, which allows us …

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

Abstract TDP‐43 (TAR‐DNA binding protein) aggregates in neuronal inclusions in
motoneuron disease (MND), as well as in frontotemporal lobar degeneration (FTLD) and …

Background Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified
in amyotrophic lateral sclerosis (ALS). Methods The relative contributions of the different …

Importance Mutations in theSQSTM1gene, coding for p62, are a cause of Paget disease of
bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1mutations were confirmed …