{"entity": "researcher", "timestamp": "2026-08-20T20:40:27.458Z", "family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "affiliations": [], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/d09ae68f3253456bae5112ee04a3b542.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/d09ae68f3253456bae5112ee04a3b542"}}, "publications": [{"entity": "publication", "iuid": "2404c1f5881c4147a5ef10d572d070f6", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/2404c1f5881c4147a5ef10d572d070f6.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/2404c1f5881c4147a5ef10d572d070f6"}}, "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-affiliated.scilifelab.se/researcher/7b2f3a648f814e2e84f74c8df9de1837.json"}}, {"family": "Thonberg", "given": "H\u00e5kan", "initials": "H", "orcid": "0000-0003-4503-4717", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/894e104d959d4ed49f46221533b1a4d9.json"}}, {"family": "Lenner", "given": "Felix", "initials": "F", "orcid": "0000-0002-9594-0710", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/068ae4ca5d0d42568778a63545296444.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-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d09ae68f3253456bae5112ee04a3b542.json"}}], "type": "journal article", "published": "2025-02-00", "journal": {"title": "Neurol Genet", "issn": "2376-7839", "volume": "11", "issue": "1", "pages": "e200238", "issn-l": null}, "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": [], "xrefs": [{"db": "pmc", "key": "PMC11748027"}, {"db": "pii", "key": "NXG-2024-100195D"}], "notes": [], "created": "2026-08-20T12:38:08.531Z", "modified": "2026-08-20T12:38:08.725Z"}, {"entity": "publication", "iuid": "56af49b5b56e429295e116214b628adf", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/56af49b5b56e429295e116214b628adf.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/56af49b5b56e429295e116214b628adf"}}, "title": "Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia", "authors": [{"family": "Bieder", "given": "Andrea", "initials": "A", "orcid": "0000-0002-4566-050X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bd5bcd3db2244e74855fedd8367b2d7a.json"}}, {"family": "Einarsdottir", "given": "Elisabet", "initials": "E", "orcid": "0000-0003-3101-2285", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae255687b53f4926b4cb9ad06dcf6edc.json"}}, {"family": "Matsson", "given": "Hans", "initials": "H", "orcid": "0000-0001-6161-1559", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/12b7e194c35f4c179cfbf750275568cc.json"}}, {"family": "Nilsson", "given": "Harriet E", "initials": "HE", "orcid": "0000-0001-7739-4405", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bb763892abdc4d94bd20e730e8225a26.json"}}, {"family": "Eisfeldt", "given": "Jesper", "initials": "J", "orcid": "0000-0003-3716-4917", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/83d05cbf798f4b48800dc89b57427cf2.json"}}, {"family": "Dragomir", "given": "Anca", "initials": "A", "orcid": "0000-0003-2777-8114", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0097cdbab8cf450688184aef60a6f8b3.json"}}, {"family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d09ae68f3253456bae5112ee04a3b542.json"}}, {"family": "Granberg", "given": "Tobias", "initials": "T", "orcid": "0000-0001-6700-1022", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a5f700b7758941dcba97ea91ae056649.json"}}, {"family": "Li", "given": "Tie Qiang", "initials": "TQ", "orcid": "0000-0002-4866-5904", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/29875ba0cddf46118e4234bed6f193b2.json"}}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}, {"family": "Kere", "given": "Juha", "initials": "J", "orcid": "0000-0003-1974-0271", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5d26c0765a7349cca1abe211339e8f33.json"}}, {"family": "Tapia-P\u00e1ez", "given": "Isabel", "initials": "I", "orcid": "0000-0002-0535-4233", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8ddcb84edd324ff4884e9c9f76926fe6.json"}}], "type": "posted-content", "published": "2020-03-31", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2020.03.30.011783", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T09:56:29.705Z", "modified": "2026-08-20T09:56:30.103Z"}]}