{"entity": "researcher", "timestamp": "2026-08-20T21:12:23.562Z", "family": "Lenner", "given": "Felix", "initials": "F", "orcid": "0000-0002-9594-0710", "affiliations": [], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/068ae4ca5d0d42568778a63545296444.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/068ae4ca5d0d42568778a63545296444"}}, "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": "d3d52f092bfb4082b0dfacda385e43b2", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/d3d52f092bfb4082b0dfacda385e43b2.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/d3d52f092bfb4082b0dfacda385e43b2"}}, "title": "Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements", "authors": [{"family": "Eisfeldt", "given": "Jesper", "initials": "J", "orcid": "0000-0003-3716-4917", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/83d05cbf798f4b48800dc89b57427cf2.json"}}, {"family": "Ameur", "given": "Adam", "initials": "A", "orcid": "0000-0001-6085-6749", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a8b8ce05cf7f49aeb3199b5938b9f160.json"}}, {"family": "Lenner", "given": "Felix", "initials": "F", "orcid": "0000-0002-9594-0710", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/068ae4ca5d0d42568778a63545296444.json"}}, {"family": "ten Berk de Boer", "given": "Esmee", "initials": "E"}, {"family": "Ek", "given": "Marlene", "initials": "M", "orcid": "0000-0001-6611-309X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8f0fa1d88ff54c23834851878f9e2b5d.json"}}, {"family": "Wincent", "given": "Josephine", "initials": "J"}, {"family": "Vaz", "given": "Raquel", "initials": "R"}, {"family": "Ottosson", "given": "Jesper", "initials": "J"}, {"family": "Jonsson", "given": "Tord", "initials": "T"}, {"family": "Ivarsson", "given": "Sofie E", "initials": "SE"}, {"family": "Thunstrom", "given": "Sofia", "initials": "S"}, {"family": "Topa", "given": "Alexandra", "initials": "A", "orcid": "0000-0002-7518-1294", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6b886b9e86f949b4864493543081dc0d.json"}}, {"family": "Stenberg", "given": "Simon", "initials": "S", "orcid": "0000-0003-0300-1730", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fa8dd5aac01d40ce8cb718f1f3a0227b.json"}}, {"family": "Rohlin", "given": "Anna", "initials": "A"}, {"family": "Sandestig", "given": "Anna", "initials": "A"}, {"family": "Nordling", "given": "Margareta", "initials": "M"}, {"family": "Palmeb\u00e4ck", "given": "Pia", "initials": "P"}, {"family": "Burstedt", "given": "Magnus", "initials": "M"}, {"family": "Nordin", "given": "Frida", "initials": "F"}, {"family": "Stattin", "given": "Eva Lena", "initials": "EL"}, {"family": "Sobol", "given": "Maria", "initials": "M"}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}, {"family": "Bondeson", "given": "Marie Louise", "initials": "ML"}, {"family": "H\u00f6ijer", "given": "Ida", "initials": "I", "orcid": "0000-0002-3915-3384", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fa1a8d7500f147cb852a2e9c3e8617c5.json"}}, {"family": "Bilgrav Saether", "given": "Kristine", "initials": "K"}, {"family": "Lovmar", "given": "Lovisa", "initials": "L"}, {"family": "Ehrencrona", "given": "Hans", "initials": "H"}, {"family": "Melin", "given": "Malin", "initials": "M"}, {"family": "Feuk", "given": "Lars", "initials": "L", "orcid": "0000-0003-2355-2919", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fbdc6712238248f28392139dacb6df99.json"}}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}], "type": "posted-content", "published": "2023-12-17", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2023.12.15.23299892", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:51:02.037Z", "modified": "2026-08-20T10:51:02.309Z"}]}