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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...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2713094300

Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis

About this item

Full title

Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Journal of neurology, 2022-10, Vol.269 (10), p.5431-5435

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

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)....

Alternative Titles

Full title

Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2713094300

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2713094300

Other Identifiers

ISSN

0340-5354

E-ISSN

1432-1459

DOI

10.1007/s00415-022-11192-x

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