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18-05-2022 | Brief Communication

Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?

Authors: Fabiana Colucci, Daniela Di Bella, Chiara Pisciotta, Elisa Sarto, Francesca Gualandi, Marcella Neri, Alessandra Ferlini, Elena Contaldi, Maura Pugliatti, Davide Pareyson, Mariachiara Sensi

Published in: Neurological Sciences | Issue 8/2022

Abstract

Introduction

Biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene was recently identified in two/third of patients with cerebellar ataxia, sensory neuropathy, and bilateral vestibular areflexia syndrome (CANVAS). The phenotypic spectrum has expanded since (i.e., parkinsonism, motor neuron involvement, cognitive decline); no behavioral symptoms have been reported yet.

Case report

We report an Italian family that met the diagnostic criteria for CANVAS, and RFC1-expansion was detected in five of seven. All the affected members presented behavioral-psychiatric symptoms (anxiety, panic attacks, alcohol abuse) before the multisystemic RFC1-expansion manifestation. The disease course was progressive, with ataxia and behavioral-cognitive aspects as the most disabling symptoms.

Conclusion

These behavioral-cognitive observations may broaden the RFC1-expansion phenotypic spectrum and highlight the importance of investigating the whole non-motor symptoms in ataxic patients.

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Title: Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?
Authors: Fabiana Colucci
Daniela Di Bella
Chiara Pisciotta
Elisa Sarto
Francesca Gualandi
Marcella Neri
Alessandra Ferlini
Elena Contaldi
Maura Pugliatti
Davide Pareyson
Mariachiara Sensi
Publication date: 18-05-2022
Publisher: Springer International Publishing
Published in: Neurological Sciences / Issue 8/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-022-06137-1

At a glance: The STEP trials

Springer Medicine

Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?

Abstract

Introduction

Case report

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Introduction

Case report

Conclusion

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