Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family
Tài liệu tham khảo
Paulson, 2009, The spinocerebellar ataxias, J. Neuroophthalmol., 29, 227, 10.1097/WNO0b013e3181b416de
Brusse, 2007, Diagnosis and management of early- and late-onset cerebellar ataxia, Clin. Genet., 71, 12, 10.1111/j.1399-0004.2006.00722.x
Ashizawa, 2016, 22, 1208
Di Donato, 2001, The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias, Neurol. Sci., 22, 219, 10.1007/s100720100017
Gros-louis, 2007, Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia, Nat. Genet., 39, 80, 10.1038/ng1927
Laforce, 2010, Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome, Cerebellum, 9, 443, 10.1007/s12311-010-0184-7
Dupré, 2007, Clinical and genetic study of autosomal recessive cerebellar ataxia type 1, Ann. Neurol., 62, 93, 10.1002/ana.21143
Noreau, 2013, SYNE1 mutations in autosomal recessive cerebellar ataxia, JAMA Neurol., 70, 1296-31
Wiethoff, 2016, Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations, J. Neurol., 263, 1503, 10.1007/s00415-016-8148-6
Simon, 2012, Very early MS—insights from MRI, Mult. Scler., 18, 1372, 10.1177/1352458512452925
Karussis, 2014, The diagnosis of multiple sclerosis and the various related demyelinating syndromes: a critical review, J. Autoimmun., 134, 10.1016/j.jaut.2014.01.022
Miller, 2008, Differential diagnosis of suspected multiple sclerosis: a consensus approach, Mult. Scler., 14, 1157, 10.1177/1352458508096878