{"entity": "publication", "iuid": "34c5c2bee8b840eb96262212b3a6964d", "timestamp": "2026-07-17T05:59:48.657Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/34c5c2bee8b840eb96262212b3a6964d.json"}, "display": {"href": "https://publications.scilifelab.se/publication/34c5c2bee8b840eb96262212b3a6964d"}}, "title": "Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder.", "authors": [{"family": "Verrecchia", "given": "Luca", "initials": "L"}, {"family": "Alm", "given": "Victor", "initials": "V", "orcid": "0009-0004-0429-5237", "researcher": {"href": "https://publications.scilifelab.se/researcher/5b7df01bf278424a87b30de0c6306751.json"}}, {"family": "Thonberg", "given": "H\u00e5kan", "initials": "H", "orcid": "0000-0003-4503-4717", "researcher": {"href": "https://publications.scilifelab.se/researcher/481958db26a2433ea8d5cc786c3b2bca.json"}}, {"family": "Lenner", "given": "Felix", "initials": "F", "orcid": "0000-0002-9594-0710", "researcher": {"href": "https://publications.scilifelab.se/researcher/075ac1709d46441ebd03420bf9c080e7.json"}}, {"family": "Paivandy", "given": "Aida", "initials": "A"}, {"family": "Feuk", "given": "Lars", "initials": "L"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications.scilifelab.se/researcher/07f3e6152da043d38c7a81974fcf8c23.json"}}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "researcher": {"href": "https://publications.scilifelab.se/researcher/bbc592904eb5402ea48a624471d4b939.json"}}], "type": "journal article", "published": "2025-02-00", "journal": {"title": "Neurol Genet", "issn": "2376-7839", "volume": "11", "issue": "1", "pages": "e200238", "issn-l": "2376-7839"}, "abstract": "Since the discovery of biallelic pentanucleotide expansions in RFC1 as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome, a wide and growing clinical spectrum has emerged. In this article, we report a man with acute vestibular syndrome that likely unmasked a RFC1-spectrum disorder.\n\nDetailed clinical evaluation, neuroimaging, nerve conduction studies, evaluation of vestibular function, and short-read whole-genome sequencing and targeted long-read adaptive sequencing were performed.\n\nClinical follow-up after acute vestibular syndrome revealed bilateral vestibular areflexia and a gait abnormality with the Scale for the Assessment and Rating of Ataxia score of 5. Brain MRI was normal while 2 electroneurography tests did not show neuropathy. However, severe cough spells raised the suspicion of a RFC1-spectrum disorder. WGS screening detected a recessive intronic pentanucleotide expansion in RFC1, which was verified and sized using long-read adaptive sequencing.\n\nThis is an unusual presentation; oscillopsia after an acute vestibular syndrome and cough spells should alert clinicians about a RFC1-spectrum disorder, even in the absence of neuropathy and neuroradiologic abnormalities.", "doi": "10.1212/NXG.0000000000200238", "pmid": "39839074", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11748027"}, {"db": "pii", "key": "NXG-2024-100195D"}], "notes": [], "created": "2025-11-18T20:47:50.741Z", "modified": "2025-11-28T10:53:37.894Z"}