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Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features.
Acta Neurol Belg. 2022 Aug; 122(4):939-945.AN

Abstract

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, slowly progressive disorder characterized by cerebellar ataxia, sensory neuropathy and bilateral vestibulopathy. Recently, a biallelic intronic AAGGG repeat expansion, (AAGGG)exp, in the Replication Factor C1 (RFC1) gene was identified as the cause of this disorder. In this study, we describe the phenotypic features of five patients from five different families diagnosed as CANVAS. The mean age at onset was 49.00 ± 9.05 years (between 34 and 56 years) and the most frequent presenting symptom in CANVAS was gait ataxia, followed by sensory disturbances. Persistent coughing was prominent in three patients, and it preceded the onset of ataxia and sensory symptoms in two patients. Parental consanguinity was present in three patients. Two patients showed symptoms or signs suggesting autonomic involvement. Sural nerve biopsy revealed axonal neuropathy in two patients. The mean age at onset was 49.00 ± 9.05 years (between 34 and 56 years) and the most frequent presenting symptom in CANVAS was gait ataxia, followed by sensory disturbances. Persistent coughing was prominent in three patients, and it preceded the onset of ataxia and sensory symptoms in two patients. Parental consanguinity was present in three patients. Two patients showed symptoms or signs suggesting autonomic involvement. Sural nerve biopsy revealed axonal neuropathy in two patients. Our study describes clinical findings, histopathological features and diagnostic clues of CANVAS from Turkey, a country with a high consanguineous marriage rate. Repeat expansion in the RFC1 gene should be considered in all cases with late-onset ataxia, especially when sensory disturbances, vestibular involvement and persistent coughing coexist.

Authors+Show Affiliations

Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34104, Fatih, Istanbul, Turkey. arman.cakar@istanbul.edu.tr.Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, Koç University School of Medicine, Istanbul, Turkey.Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34104, Fatih, Istanbul, Turkey.Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34104, Fatih, Istanbul, Turkey.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

34101140

Citation

Çakar, Arman, et al. "Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (canvas): an Important Cause of Late-onset Ataxia With Unique Clinical Features." Acta Neurologica Belgica, vol. 122, no. 4, 2022, pp. 939-945.
Çakar A, Şahin E, Tezel S, et al. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features. Acta Neurol Belg. 2022;122(4):939-945.
Çakar, A., Şahin, E., Tezel, S., Candayan, A., Samancı, B., Battaloğlu, E., Başak, A. N., Bilgiç, B., Hanağası, H., Durmuş, H., & Parman, Y. (2022). Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features. Acta Neurologica Belgica, 122(4), 939-945. https://doi.org/10.1007/s13760-021-01721-2
Çakar A, et al. Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (canvas): an Important Cause of Late-onset Ataxia With Unique Clinical Features. Acta Neurol Belg. 2022;122(4):939-945. PubMed PMID: 34101140.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features. AU - Çakar,Arman, AU - Şahin,Erdi, AU - Tezel,Seden, AU - Candayan,Ayşe, AU - Samancı,Bedia, AU - Battaloğlu,Esra, AU - Başak,A Nazlı, AU - Bilgiç,Başar, AU - Hanağası,Haşmet, AU - Durmuş,Hacer, AU - Parman,Yeşim, Y1 - 2021/06/08/ PY - 2021/03/17/received PY - 2021/06/02/accepted PY - 2021/6/9/pubmed PY - 2022/7/23/medline PY - 2021/6/8/entrez KW - Coughing KW - Diagnosis KW - Genetic KW - Polyneuropathy KW - RFC1 SP - 939 EP - 945 JF - Acta neurologica Belgica JO - Acta Neurol Belg VL - 122 IS - 4 N2 - Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, slowly progressive disorder characterized by cerebellar ataxia, sensory neuropathy and bilateral vestibulopathy. Recently, a biallelic intronic AAGGG repeat expansion, (AAGGG)exp, in the Replication Factor C1 (RFC1) gene was identified as the cause of this disorder. In this study, we describe the phenotypic features of five patients from five different families diagnosed as CANVAS. The mean age at onset was 49.00 ± 9.05 years (between 34 and 56 years) and the most frequent presenting symptom in CANVAS was gait ataxia, followed by sensory disturbances. Persistent coughing was prominent in three patients, and it preceded the onset of ataxia and sensory symptoms in two patients. Parental consanguinity was present in three patients. Two patients showed symptoms or signs suggesting autonomic involvement. Sural nerve biopsy revealed axonal neuropathy in two patients. The mean age at onset was 49.00 ± 9.05 years (between 34 and 56 years) and the most frequent presenting symptom in CANVAS was gait ataxia, followed by sensory disturbances. Persistent coughing was prominent in three patients, and it preceded the onset of ataxia and sensory symptoms in two patients. Parental consanguinity was present in three patients. Two patients showed symptoms or signs suggesting autonomic involvement. Sural nerve biopsy revealed axonal neuropathy in two patients. Our study describes clinical findings, histopathological features and diagnostic clues of CANVAS from Turkey, a country with a high consanguineous marriage rate. Repeat expansion in the RFC1 gene should be considered in all cases with late-onset ataxia, especially when sensory disturbances, vestibular involvement and persistent coughing coexist. SN - 2240-2993 UR - https://wwww.unboundmedicine.com/medline/citation/34101140/Cerebellar_ataxia_neuropathy_and_vestibular_areflexia_syndrome__canvas_:_an_important_cause_of_late_onset_ataxia_with_unique_clinical_features_ DB - PRIME DP - Unbound Medicine ER -