Missing values in Excel sheet reflect missing clinical data that could not be extracted from the records, probably indicating that the corresponding feature had not been asked or clinically examined.
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"person_or_org": { "family_name": "Gazulla", "given_name": "Jose", "name": "Gazulla, Jose", "type": "personal" } }, { "affiliations": [ { "name": "Ludwig Maximilian University of Munich" } ], "person_or_org": { "family_name": "Strupp", "given_name": "Michael", "name": "Strupp, Michael", "type": "personal" } }, { "affiliations": [ { "name": "Central University Hospital of Asturias" } ], "person_or_org": { "family_name": "Moris", "given_name": "German", "name": "Moris, German", "type": "personal" } }, { "affiliations": [ { "name": "University of Naples Federico II" } ], "person_or_org": { "family_name": "Filla", "given_name": "Alessandro", "name": "Filla, Alessandro", "type": "personal" } }, { "affiliations": [ { "name": "University College London" } ], "person_or_org": { "family_name": "Houlden", "given_name": "Henry", "name": "Houlden, Henry", "type": "personal" } }, { "affiliations": [ { "name": "University of Strasbourg" } ], "person_or_org": { "family_name": "Anheim", "given_name": "Mathieu", "name": "Anheim, Mathieu", "type": "personal" } }, { "affiliations": [ { "name": "University of Cantabria" } ], "person_or_org": { "family_name": "Infante", "given_name": "Jon", "name": "Infante, Jon", "type": "personal" } }, { "affiliations": [ { "name": "Ko\u00e7 University" } ], "person_or_org": { "family_name": "Basak", "given_name": "A. Nazli", "name": "Basak, A. Nazli", "type": "personal" } }, { "affiliations": [ { "name": "University of T\u00fcbingen" } ], "person_or_org": { "family_name": "Synofzik", "given_name": "Matthis", "identifiers": [ { "identifier": "0000-0002-2280-7273", "scheme": "orcid" } ], "name": "Synofzik, Matthis", "type": "personal" } } ], "description": "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).
\n\nMethods: 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 \u22652 features of CANVAS and/or ataxia-with-chronic-cough (ACC); and (ii) Turkish cohort B (105 families) with unselected late-onset ataxia.
\n\nResults: 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 \u22649 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.
\n\nConclusions: 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.
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