Importance Presymptomatic carriers of chromosome 9 open reading frame 72 (C9orf72)
mutation, the most frequent genetic cause of frontotemporal lobar degeneration and …

Objective: Based on our previous work in Huntington disease (HD) showing improved
energy metabolism in muscle by providing substrates to the Krebs cycle, we wished to …

Objective As gene-based therapies may soon arise for patients with spinocerebellar ataxia
(SCA), there is a critical need to identify biomarkers of disease progression with effect sizes …

Objective C9orf72 hexanucleotide repeats expansions account for almost half of familial
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases. Recent …

Objective On the basis of our previous work with triheptanoin, which provides key substrates
to the Krebs cycle in the brain, we wished to assess its therapeutic effect in patients with …

Importance Behavioral disturbances are core features of frontotemporal dementia (FTD);
however, symptom progression across the course of disease is not well characterized in …

Spinocerebellar ataxias (SCAs) belong to polyglutamine repeat disorders and are
characterized by a predominant atrophy of the cerebellum and the pons. Proton magnetic …

Objective To assess the added value of neurite orientation dispersion and density imaging
(NODDI) compared with conventional diffusion tensor imaging (DTI) and anatomical MRI to …

Background Studies have previously shown evidence for presymptomatic cortical atrophy in
genetic FTD. Whilst initial investigations have also identified early deep grey matter volume …

Objective Neurofilament light chain (NfL) is a promising biomarker in genetic frontotemporal
dementia (FTD) and amyotrophic lateral sclerosis (ALS). We evaluated plasma …