3 documents found, page 1 of 1
Temporal order of clinical and biomarker changes in familial frontotemporal dem...
Frontotemporal Dementia Prevention Initiative (FPI) Investigators; ALLFTD Investigators; GENFI investigators; Staffaroni, Adam M.; Quintana, MelanieUnlike familial Alzheimer’s disease, we have been unable to accurately predict symptom onset in presymptomatic familial frontotemporal dementia (f-FTD) mutation carriers, which is a major hurdle to designing disease prevention trials. We developed multimodal models for f-FTD disease progression and estimated clinical trial sample sizes in C9orf72, GRN and MAPT mutation carriers. Models included longitudinal cli...
Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease
Raposo, Mafalda; Bettencourt, Conceição; Maciel, P.; Gao, Fuying; Ramos, Amanda; Kazachkova, Nadiya; Vasconcelos, João; Kay, Teresa; Rodrigues, Ana JoãoBACKGROUND: Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3. Previous studies on cell and animal models have suggested that mutated ataxin-3 is involved in transcriptional dysregulation. Starting with a whole-transcriptome profiling of periphera...
The Autism Simplex Collection: an international, expertly phenotyped autism sam...
Buxbaum, Joseph D.; Bolshakova, Nadia; Brownfeld, Jessica M.; Anney, Richard J. l.; Bender, Patrick; Bernier, Raphael; Cook, Edwin H.; Coon, HilaryBackground: There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD. Methods: In a unique public-private partnership, 13 sites with extensive experience in both the assessment and diagnosis of ASD embarked on an ambitious, 2-year programto collect samples for genetic and phenotypic research and begin analyses on these samples. The p...