Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?
Ataxia
Behavioral-psychiatric symptoms
CANVAS
Cerebellar
RFC1 expansion
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
Aug 2022
Aug 2022
Historique:
received:
13
02
2022
accepted:
08
05
2022
pubmed:
19
5
2022
medline:
6
8
2022
entrez:
18
5
2022
Statut:
ppublish
Résumé
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. 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. 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.
Identifiants
pubmed: 35585435
doi: 10.1007/s10072-022-06137-1
pii: 10.1007/s10072-022-06137-1
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
5095-5098Subventions
Organisme : Fondazione per la Ricerca Biomedica
ID : CP 20/2018
Informations de copyright
© 2022. Fondazione Società Italiana di Neurologia.
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