1. Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?
- Author
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Colucci, Fabiana, Di Bella, Daniela, Pisciotta, Chiara, Sarto, Elisa, Gualandi, Francesca, Neri, Marcella, Ferlini, Alessandra, Contaldi, Elena, Pugliatti, Maura, Pareyson, Davide, and Sensi, Mariachiara
- 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. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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