Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): a family with five affected sibs from Turkey

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dc.authorid0000-0003-4870-3154
dc.authorid0000-0003-1205-9889
dc.authorid0000-0003-4861-0249
dc.contributor.authorGokcay, Figen
dc.contributor.authorBaskan, Gulcan Nesem
dc.contributor.authorSahbaz, Irmak
dc.contributor.authorKoc, Muge Kovancilar
dc.contributor.authorBasak, A. Nazli
dc.contributor.authorCelebisoy, Nese
dc.date.accessioned2025-05-07T08:24:23Z
dc.date.available2025-05-07T08:24:23Z
dc.date.issued2024
dc.departmentEge Üniversitesi, Tıp Fakültesi, Dahili Bilimler Bölümü, Nöroloji Ana Bilim Dalı
dc.description.abstractBackgroundCerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), a relatively common cause of late-onset progressive ataxia, is a genetic disease characterised by biallelic pentanucleotide AAGGG repeat expansion in intron 2 of the replication factor complex subunit 1 gene. Herein, we describe the first molecularly confirmed CANVAS family with five affected siblings from Turkey.Case presentationThe family comprised seven siblings born from healthy non-consanguineous parents. CANVAS phenotype was present in five of them; two were healthy and asymptomatic. Chronic cough was the first symptom reported in all five siblings, followed by the development of sensory symptoms, oscillopsia and imbalance. Clinical head impulse test (HIT) was positive in all cases and video HIT performed on three patients revealed very low vestibulo-ocular reflex gains bilaterally. Magnetic resonance imaging and nerve conduction studies revealed cerebellar atrophy and sensory neuronopathy, respectively. RP-PCR confirmed the homozygous presence of the AAGGG repeat expansion in all five cases.ConclusionGenetic screening for CANVAS should be considered in all patients with late-onset ataxia, sensory disturbances and vestibular involvement, especially in the presence of chronic cough.
dc.identifier.citationGokcay, F., Baskan, G. N., Sahbaz, I., Koc, M. K., Basak, A. N., & Celebisoy, N. (2024). Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): A family with five affected sibs from turkey. BMC Neurology, 24(1), 356-7.
dc.identifier.doi10.1186/s12883-024-03782-1
dc.identifier.endpage7
dc.identifier.issn14712377
dc.identifier.issue1
dc.identifier.pmid39342186
dc.identifier.scopus2-s2.0-85205335132
dc.identifier.scopusqualityQ2
dc.identifier.startpage1
dc.identifier.urihttps://doi.org/10.1186/s12883-024-03782-1
dc.identifier.urihttps://hdl.handle.net/11454/117207
dc.identifier.volume24
dc.identifier.wosWOS:001325083700003
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorGokcay, Figen
dc.institutionauthorBaskan, Gulcan Nesem
dc.institutionauthorCelebisoy, Nese
dc.institutionauthorid0000-0003-4870-3154
dc.institutionauthorid0000-0003-1205-9889
dc.institutionauthorid0000-0003-4861-0249
dc.language.isoen
dc.publisherBMC
dc.relation.ispartofBMC Neurology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectCerebellar ataxia
dc.subjectNeuropathy
dc.subjectVestibular areflexia
dc.subjectHead impulse test
dc.subjectCough
dc.subjectRFC1
dc.titleCerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): a family with five affected sibs from Turkey
dc.typeArticle

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