Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential...
Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Contents
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)....
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Full title
Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis
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TN_cdi_proquest_journals_2713094300
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2713094300
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ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-022-11192-x