Find research datasets worth reusing
Search datasets from major research repositories and use ShareScore to quickly assess how well each record supports discovery, access, and reuse.
8
datasets available to search
ShareScore release 0.9.0
Dataset results
8 results for “RFC1”
Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1-disease
<p>Objective: To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of RFC1-repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS).</p> <p>Methods: Multimodal RFC1 repeat screening (PCR, southern blot, whole-exome/genome (WES/WGS)-based approaches) combined with cross-sectional and longitudinal deep-phenotyping in (i) cross-European cohort A (70 families) with ≥2 features of CANVAS and/or ataxia-with-chronic-cough (ACC); and (ii) Turkish cohort B (105 families) with unselected late-onset ataxia.</p> <p>Results: Prevalence of RFC1-disease was 67% in cohort A, 14% in unselected cohort B, 68% in clinical CANVAS, and 100% in ACC. RFC1-disease was also identified in Western and Eastern Asians, and even by WES. Visual compensation, sensory symptoms, and cough were strong positive discriminative predictors (>90%) against RFC1-negative patients. The phenotype across 70 RFC1-positive patients was mostly multisystemic (69%), including dysautonomia (62%) and bradykinesia (28%) (=overlap with cerebellar-type multiple system atrophy [MSA-C]), postural instability (49%), slow vertical saccades (17%), and chorea and/or dystonia (11%). Ataxia progression was ~1.3 SARA points/year (32 cross-sectional, 17 longitudinal assessments, follow-up ≤9 years [mean 3.1]), but also included early falls, variable non-linear phases of MSA-C-like progression (SARA 2.5-5.5/year), and premature death. Treatment trials require 330 (1-year-trial) and 132 (2-year-trial) patients in total to detect 50% reduced progression.</p> <p>Conclusions: RFC1-disease is frequent and occurs across continents, with CANVAS and ACC as highly diagnostic phenotypes, yet as variable, overlapping clusters along a continuous multisystemic disease spectrum, including MSA-C-overlap. Our natural history data help to inform future RFC1-treatment trials.</p>
Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1-disease
Open the record for dataset details and reuse information.
RFC1 Natural History Study
ClinicalTrials.gov study NCT05177809. IPD Sharing: UNDECIDED. Countries: 7. Publications: 0.
Pathogenic Insights and Search for Biomarkers in RFC1-ataxia/CANVAS
ClinicalTrials.gov study NCT07156214. IPD Sharing: Not stated. Countries: 1. Publications: 0.
AAGGG repeat expansions trigger repeat-dependent synaptic dysregulation in human CANVAS Neurons [RFC1_Knockdown]
GEO Series GSE248343. Homo sapiens. 15 samples. Type: Expression profiling by high throughput sequencing.
AAGGG repeat expansions trigger repeat-dependent synaptic dysregulation in human CANVAS Neurons [RFC1_Addition]
GEO Series GSE248344. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons
GEO Series GSE248345. Homo sapiens. 41 samples. Type: Expression profiling by high throughput sequencing.
raw data related to article "BEYOND CANVAS: BEHAVIORAL ONSET OF RFC1‑EXPANSION DISEASE IN AN ITALIAN FAMILY—CAUSAL OR CASUAL?"
<p><strong>GENETICS RAW DATA OF A CANVAS FAMILY: RP-PCR, FRAGMENT ANALYSIS</strong></p>
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.