Clinical and laboratory diagnosis of spinocerebellar ataxia type 3 in a large Chinese family

1. Evidente VG, Gwinn-Hardy KA, Caviness JN and Gilman S. Hereditary ataxias. Mayo Clin Proc. 2000; 75: 475-90.10.1016/S0025-6196(11)64217-1Search in Google Scholar

2. Smith COS, Michelson SJ, Bennett RL and Bird TD. Spinocerebellar Ataxia: Making an Informed Choice About Genetic Testing. 2004:1-14.Search in Google Scholar

3. Bird TD. Hereditary Ataxia Overview GeneReviews. NCBI Bookshelf. 2009.Search in Google Scholar

4. Cholfin JA, Sobrido MJ, Perlman S, Pulst SM and Geschwind DH. The SCA12 mutation as a rare cause of spinocerebellar ataxia. Arch Neurol. 2001; 58:1833-5.10.1001/archneur.58.11.1833Search in Google Scholar

5. Rosa AL, Ashizawa T. Genetic ataxia. Neurol Clin. 2002; 20:727-57.10.1016/S0733-8619(02)00008-7Open DOISearch in Google Scholar

6. Duenas AM, Goold R and Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006; 129:1357-70.10.1093/brain/awl08116613893Search in Google Scholar

7. Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington’s disease. Nat Genet.1993; 4:393-7.10.1038/ng0893-3938401588Open DOISearch in Google Scholar

8. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994; 8:221-8.10.1038/ng1194-2217874163Open DOISearch in Google Scholar

9. Paulson HL. The spinocerebellar ataxias. J Neuroophthalmol. 2009; 29:227-37.10.1097/WNO0b013e3181b416de273912219726947Search in Google Scholar

10. Riess O, Rub U, Pastore A, Bauer P and Schols L. SCA3: neurological features, pathogenesis and animal models. Cerebellum. 2008; 7:125-37.10.1007/s12311-008-0013-418418689Open DOISearch in Google Scholar

11. Tallaksen CM. Hereditary ataxias. Tidsskr Nor Laegeforen. 2008; 128:1977-80.Search in Google Scholar

12. Jiang H, Tang BS, Xu B, Zhao GH, Shen L, Tang JG, et al. Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Chin Med J (Engl). 2005; 118:837-43.Search in Google Scholar

13. Nakano KK, Dawson DM and Spence A. Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology. 1972; 22:49-55.10.1212/WNL.22.1.495061839Open DOISearch in Google Scholar

14. Rosenberg RN. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord. 1992; 7:193-203. 10.1002/mds.8700703021620135Open DOISearch in Google Scholar