Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis.
CANVAS
Disease progression
Heterozygotes
MSA
RFC-1
SAOA
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Oct 2022
Oct 2022
Historique:
received:
10
03
2022
accepted:
12
05
2022
revised:
10
05
2022
pubmed:
29
5
2022
medline:
15
9
2022
entrez:
28
5
2022
Statut:
ppublish
Résumé
We screened 62 late-onset ataxia patients for the AAGGG pathological expansion in the RFC-1 gene that, when biallelic, causes Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS). Nine patients tested positive. Six had a previous diagnosis of sporadic adult-onset ataxia (SAOA) and three of multisystem atrophy type C (MSA-C). Further six patients were heterozygous for the pathological RFC-1 expansion, four with an initial diagnosis of MSA-C and two of SAOA. In comparison with CANVAS, MSA-C patients had faster progression and shorter disease duration to walking with aids. An abnormal DaTscan does not seem to contribute to differential diagnosis between CANVAS and MSA-C.
Identifiants
pubmed: 35633373
doi: 10.1007/s00415-022-11192-x
pii: 10.1007/s00415-022-11192-x
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
5431-5435Subventions
Organisme : AISA
ID : 1 2018
Organisme : Ministry of Health
ID : RF-2016-02361610
Organisme : PREPARE
ID : 3398
Organisme : PROSPAX
ID : 2019
Organisme : Ministry of Health Ricerca Corrente 5x1000
ID : 2021
Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.
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