{Reference Type}: Journal Article
{Title}: Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis.
{Author}: Barghigiani M;De Michele G;Tessa A;Fico T;Natale G;Saccà F;Pane C;Cuomo N;De Rosa A;Pappatà S;De Michele G;Santorelli FM;Filla A;
{Journal}: J Neurol
{Volume}: 269
{Issue}: 10
{Year}: Oct 2022
{Factor}: 6.682
{DOI}: 10.1007/s00415-022-11192-x
{Abstract}: 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.