%0 Journal Article
%T Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis.
%A Barghigiani M
%A De Michele G
%A Tessa A
%A Fico T
%A Natale G
%A Saccà F
%A Pane C
%A Cuomo N
%A De Rosa A
%A Pappatà S
%A De Michele G
%A Santorelli FM
%A Filla A
%J J Neurol
%V 269
%N 10
%D Oct 2022
%M 35633373
%F 6.682
%R 10.1007/s00415-022-11192-x
%X 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.