Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis(170 views) Barghigiani M, De Michele G, Tessa A, Fico T, Natale G, Saccà F, Pane C, Cuomo N, De Rosa A, Pappata S, De Michele G, Santorelli FM, Filla A
Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Stella Maris, Pisa, Italy., Department of Neurosciences Reproductive and Odontostomatological Sciences, Federico II University, Via Sergio Pansini, 80131, Naples, Italy., Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy., Department of Neurosciences Reproductive and Odontostomatological Sciences, Federico II University, Via Sergio Pansini, 80131, Naples, Italy. afilla@unina.it.,
References: Not available.
Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis
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.
Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis
Antonini A, Vitale C, Barone P, Cilia R, Righini A, Bonuccelli U, Abbruzzese G, Ramat S, Petrone A, Quatrale R, Marconi R, Ceravolo R, Stefani A, Lopiano L, Zappia M, Capus L, Morgante L, Tamma F, Tinazzi M, Colosimo C, Guerra UP, Valzania F, Fagioli G, Distefano A, Bagnato A, Feggi L, Anna S, Maria Teresa Rosaria De Cr, Nobili F, Mazzuca N, Baldari S, Eleopra R, Bestetti A, Benti R, Varrone A, Volterrani D, Massa R, Stocchi F, Schillaci O, Dore F, Zibetti M, Castellano G, Battista SG, Giorgetti G * The relationship between cerebral vascular disease and parkinsonism: The VADO study(919 views) Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2012; 18(6): 775-780. Impact Factor:3.274 ViewExport to BibTeXExport to EndNote