{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:26:42Z","timestamp":1790778402360,"version":"4.1.0"},"reference-count":36,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T00:00:00Z","timestamp":1639958400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Medical Research Council","award":["MR\/T001712\/1"],"award-info":[{"award-number":["MR\/T001712\/1"]}]},{"DOI":"10.13039\/501100002803","name":"Fondazione CARIPLO","doi-asserted-by":"crossref","award":["2019-1836"],"award-info":[{"award-number":["2019-1836"]}],"id":[{"id":"10.13039\/501100002803","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical features.<\/jats:p>\n                  <jats:p>We clinically and genetically characterized 50 patients, selected based on the presence of sensory neuronopathy confirmed by EMG. We screened RFC1 expansion by PCR, repeat-primed PCR, and Southern blotting of long-range PCR products, a newly developed method. Neuropathological characterization was performed on the brain and spinal cord of one patient.<\/jats:p>\n                  <jats:p>Most patients (88%) carried a biallelic (AAGGG)n expansion in RFC1. In addition to the core CANVAS phenotype (sensory neuronopathy, cerebellar syndrome and vestibular impairment), we observed chronic cough (97%), oculomotor signs (85%), motor neuron involvement (55%), dysautonomia (50%), and parkinsonism (10%). Motor neuron involvement was found for 24 of 38 patients (63.1%). First motor neuron signs, such as brisk reflexes, extensor plantar responses, and\/or spasticity, were present in 29% of patients, second motor neuron signs, such as fasciculations, wasting, weakness, or a neurogenic pattern on EMG in 18%, and both in 16%. Mixed motor and sensory neuronopathy was observed in 19% of patients. Among six non-RFC1 patients, one carried a heterozygous AAGGG expansion and a pathogenic variant in GRM1. Neuropathological examination of one RFC1 patient with an enriched phenotype, including parkinsonism, dysautonomia, and cognitive decline, showed posterior column and lumbar posterior root atrophy. Degeneration of the vestibulospinal and spinocerebellar tracts was mild. We observed marked astrocytic gliosis and axonal swelling of the synapse between first and second motor neurons in the anterior horn at the lumbar level. The cerebellum showed mild depletion of Purkinje cells, with empty baskets, torpedoes, and astrogliosis characterized by a disorganization of the Bergmann\u2019s radial glia. We found neuronal loss in the vagal nucleus. The pars compacta of the substantia nigra was depleted, with widespread Lewy bodies in the locus coeruleus, substantia nigra, hippocampus, entorhinal cortex, and amygdala.<\/jats:p>\n                  <jats:p>We propose new guidelines for the screening of RFC1 expansion, considering different expansion motifs. Here, we developed a new method to more easily detect pathogenic RFC1 expansions. We report frequent motor neuron involvement and different neuronopathy subtypes. Parkinsonism was more prevalent in this cohort than in the general population, 10% versus the expected 1% (P\u2009&amp;lt;\u20090.001). We describe, for the first time, the spinal cord pathology in CANVAS, showing the alteration of posterior columns and roots, astrocytic gliosis and axonal swelling, suggesting motor neuron synaptic dysfunction.<\/jats:p>","DOI":"10.1093\/brain\/awab449","type":"journal-article","created":{"date-parts":[[2021,12,16]],"date-time":"2021-12-16T15:12:31Z","timestamp":1639667551000},"page":"2121-2132","source":"Crossref","is-referenced-by-count":83,"title":["Motor neuron pathology in CANVAS due to\n                    <i>RFC1<\/i>\n                    expansions"],"prefix":"10.1093","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8201-5406","authenticated-orcid":false,"given":"Vincent","family":"Huin","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute, APHP, INSERM, CNRS , F-75013 Paris , France"},{"name":"Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog (JPARC) - Lille Neuroscience and Cognition , F-59000 Lille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Coarelli","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute, APHP, INSERM, CNRS , F-75013 Paris , France"},{"name":"APHP, Genetics Department, Piti\u00e9 Salp\u00eatri\u00e8re University Hospital, Sorbonne Universit\u00e9 , Paris 75013 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9ment","family":"Guemy","sequence":"additional","affiliation":[{"name":"APHP, Genetics Department, Piti\u00e9 Salp\u00eatri\u00e8re University Hospital, Sorbonne Universit\u00e9 , Paris 75013 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Boluda","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute, APHP, INSERM, CNRS , F-75013 Paris , France"},{"name":"APHP, Laboratoire Neuropathologie Raymond Escourolle, Piti\u00e9 Salp\u00eatri\u00e8re University Hospital, Sorbonne Universit\u00e9 , F-75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabab","family":"Debs","sequence":"additional","affiliation":[{"name":"APHP, Department of Neurology, Piti\u00e9 Salp\u00eatri\u00e8re University Hospital, Sorbonne Universit\u00e9 , F-75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Mochel","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute, APHP, INSERM, CNRS , F-75013 Paris , France"},{"name":"APHP, Genetics Department, Piti\u00e9 Salp\u00eatri\u00e8re University Hospital, Sorbonne Universit\u00e9 , Paris 75013 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Institut de Myologie, Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris-Est, AP-HP, Piti\u00e9 Salp\u00eatri\u00e8re University Hospital, Sorbonne University , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Grabli","sequence":"additional","affiliation":[{"name":"APHP, Department of Neurology, Piti\u00e9 Salp\u00eatri\u00e8re University Hospital, Sorbonne Universit\u00e9 , F-75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Maisonobe","sequence":"additional","affiliation":[{"name":"Institut de Myologie, Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris-Est, AP-HP, Piti\u00e9 Salp\u00eatri\u00e8re University Hospital, Sorbonne University , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Gaymard","sequence":"additional","affiliation":[{"name":"APHP, Department of Neurophysiology, Piti\u00e9 Salp\u00eatri\u00e8re University Hospital, Sorbonne Universit\u00e9 , F-75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timoth\u00e9e","family":"Lenglet","sequence":"additional","affiliation":[{"name":"APHP, Department of Neurophysiology, Piti\u00e9 Salp\u00eatri\u00e8re University Hospital, Sorbonne Universit\u00e9 , F-75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Tard","sequence":"additional","affiliation":[{"name":"Univ. 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University Hospital, Sorbonne University , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perrine","family":"Charles","sequence":"additional","affiliation":[{"name":"APHP, Genetics Department, Piti\u00e9 Salp\u00eatri\u00e8re University Hospital, Sorbonne Universit\u00e9 , Paris 75013 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Le Ber","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris Brain Institute, APHP, INSERM, CNRS , F-75013 Paris , France"},{"name":"APHP, National Reference Center for \u201cRare and Young Dementia\u201d, IM2A, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, Sorbonne Universit\u00e9 , F-75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary M","family":"Reilly","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital 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