DEMENTIA-SEQ: WGS in Lewy Body Dementia and Frontotemporal Dementia

Lewy body dementia, amyotrophic lateral sclerosis/frontotemporal dementia, and multiple system atrophy are age-related, neurodegenerative syndromes that are poorly understood. Delineating the genetic risk that is driving the pathophysiology of these neurological diseases is fundamental for understanding disease mechanisms and for developing disease-modifying treatments. In version 1 of the study/dbGaP deposition, we performed a whole-genome sequencing study consisting of 7,403 total samples, including 2,633 genomes from patients with Lewy body dementia, 2,641 frontotemporal dementia patients, and 1,980 neurologically healthy controls. Of these, 6,907 were uploaded to dbGaP as the basis of the DementiaSeq, phs001963 dataset. The data relating to these samples are available on dbGaP. In version 2 of this study/dbGaP deposition, we made much of these data available on Anvil. More specifically, data for 6,254 of these samples were also uploaded to the ALS Compute platform on AnVIL. The data for the remaining 653 samples are only available on dbGaP. The dbGaP/AnVIL Table lists the availability of dbGaP and AnVIL for each individual sample: phd008475.In version 3 of the study/dbGaP deposition, we added whole-genome sequence data generated using DNA samples obtained from 683 patients diagnosed with multiple system atrophy.]]>
dbGaP/AnVIL TableLewy body dementia cohort Inclusion criteria: Male and female participants aged 18 or over Pathological diagnosis of intermediate or high likelihood for dementia with Lewy bodies (defined by McKeith1 consensus criteria) OR clinically diagnosed probable dementia with Lewy bodies (defined by McKeith1 consensus criteria) OR clinically diagnosed probable Parkinson's disease dementia (defined by Emre2 consensus criteria) Exclusion criteria: Concurrent other neurological conditions, such as stroke, severe microvascular disease or systemic disorders that could mimic Lewy body dementia or affect the interpretation of the study Non-Caucasian ethnic background Frontotemporal dementia/amyotrophic lateral sclerosis cohort Pathologically diagnosed patients: Inclusion criteria: Male and female participants aged 18 or over Pathologically proven for FTLD-TDP and/or FTLD-Tau Clinically diagnosed cases: Inclusion criteria: Male and female participants aged 18 or over Clinically diagnosed patients diagnosed with frontotemporal dementia spectrum disorders, including primary progressive aphasia, behavioral variant frontotemporal dementia, progressive supranuclear palsy, frontotemporal dementia with amyotrophic lateral sclerosis, amyotrophic lateral sclerosis, and frontotemporal dementia with corticobasal syndrome Exclusion criteria: Concurrent other neurological conditions, such as stroke, severe microvascular disease or systemic disorders that could mimic frontotemporal dementia spectrum disorders or affect the interpretation of the study Non-Caucasian ethnic backgroundMultiple system atrophy cohort Inclusion criteria: Male and female participants aged 18 or over Pathological diagnosis of multiple system atrophy OR clinically probable diagnosis of multiple system atrophy [Gilman criteria] Exclusion criteria: Concurrent other neurological conditions, such as stroke, severe microvascular disease or systemic disorders that could affect the interpretation of the study Non-Caucasian ethnic backgroundControl cohort Inclusion criteria: Male and female participants aged 18 or over Neurologically healthy at the time of collection Exclusion criteria: Concurrent other neurological conditions, such as stroke, severe microvascular disease or systemic disorders that could affect the interpretation of the study Non-Caucasian ethnic background ]]>
In version 1 of the study/dbGaP deposition, we performed a whole-genome sequencing study consisting of 7,403 total samples that included 2,633 genomes from patients with Lewy body dementia, 2,641 frontotemporal dementia patients, and 1,980 neurologically healthy controls. Of these, 6,907 were included in the analysis after filtering and are available here. In version 2 of this study/dbGaP deposition, we made much of the data available on Anvil. In version 3 of the study/dbGaP deposition, we added whole-genome sequence data generated using DNA samples obtained from 683 patients diagnosed with multiple system atrophy. ]]>