Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
BMC Medical Genetics
Published in: BMC Medical Genetics 1/2010

Open Access 01-12-2010 | Research article

High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia

Authors: Shi-Rui Gan, Sheng-Sheng Shi, Jian-Jun Wu, Ning Wang, Gui-Xian Zhao, Sheng-Tong Weng, Shen-Xing Murong, Chuan-Zhen Lu, Zhi-Ying Wu

Published in: BMC Medical Genetics | Issue 1/2010

Login to get access

Abstract

Background

Machado-Joseph disease (MJD), caused by a CAG repeat expansion located in exon10 of the ATXN3 gene, is now regarded as one of the most common spinocerebellar ataxia (SCA) in the world. The relative frequency of MJD among SCA has previously been estimated at about 50% in the Chinese population and has been reported to be related to the frequency of large normal alleles in some populations. Taq polymerase has been used for PCR in nearly all studies reported previously.

Methods

Normal and expanded alleles of ATXN3 were detected via PCR using LA Taq DNA polymerase (better for GC-rich sequences) and denaturing polyacrylamide gel electrophoresis in 150 normal individuals and 138 unrelated probands from autosomal dominant SCA families. To compare reaction efficiency, 12 MJD patients' expanded alleles were amplified with La Taq and Taq polymerase respectively in the same amplifying systems and reaction conditions.

Results

Normal alleles ranged from 12 to 42 CAG repeats. The most common allele contained 14 repeats with a frequency of 23.3%, which corroborates previous reports. The frequency of large normal alleles (>27 repeats) was 0.28, which was very high relative to previous reports. The frequency of MJD in SCA patients was 72.5%, which was significantly higher than those in previous reports about the Chinese and other Asian populations. This frequency was one of the highest reported worldwide, with only Portuguese and Brazilian populations exhibiting higher proportions. All 12 expanded alleles were amplified in PCR with La Taq polymerase, whereas only 2 expanded alleles were amplified with Taq polymerase.

Conclusion

We have first reported the highest relative frequency of MJD in Asia, and we attribute this high frequency to a more efficient PCR using LA Taq polymerase and hypothesized that large ANs may act as a reservoir for expanded alleles in the Southeastern Chinese population.
Appendix
Available only for authorised users
Literature
1.
Takiyama Y, Oyanagi S, Kawashima S, Sakamoto H, Saito K, Yoshida M, Tsuji S, Mizuno Y, Nishizawa M: A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology. 1994, 44: 1302-1308.CrossRefPubMed
2.
Sequeiros J, Coutinho P: Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol. 1993, 61: 139-153.PubMed
3.
Schöls L, Bauer P, Schmidt T, Schulte T, Riess O: Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004, 3: 291-304. 10.1016/S1474-4422(04)00737-9.CrossRefPubMed
4.
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A: CAG repeat expansions in a novel gene for Machado-Joseeph disease at chromosome 14q32.1. Nature Genet. 1994, 8: 221-228. 10.1038/ng1194-221.CrossRefPubMed
5.
6.
Arezi B, Xing W, Sorge JA, Hogrefe HH: Amplification efficiency of thermostable DNA polymerases. Anal Biochem. 2003, 321: 226-235. 10.1016/S0003-2697(03)00465-2.CrossRefPubMed
7.
Maciel P, Costa MC, Ferro A, Rousseau M, Santos CS, Gaspar C, Barros J, Rouleau GA, Coutinho P, Sequeiros J: Improvement in the molecular diagnosis of Machado-Joseph disease. Arch Neurol. 2001, 58: 1821-1827. 10.1001/archneur.58.11.1821.CrossRefPubMed
8.
Mittal U, Srivastava AK, Jain S, Jain S, Mukerji M: Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies. Arch Neurol. 2005, 62: 637-640. 10.1001/archneur.62.4.637.CrossRefPubMed
9.
Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, Didierjean O, Dürr A, Oyake M, Shimohata T, Sasaki R, Koide R, Igarashi S, Hayashi S, Takiyama Y, Nishizawa M, Tanaka H, Zoghbi H, Brice A, Tsuji S: Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet. 1998, 63: 1060-1066. 10.1086/302067.CrossRefPubMedPubMedCentral
10.
Chattopadhyay B, Basu P, Gangopadhyay PK, Mukherjee SC, Sinha KK, Chakraborty A, Roy T, Roychoudhury S, Majumder PP, Bhattacharyya NP: Variation of CAG repeats and two intragenic polymorphisms at SCA3 locus among Machado-Joseph disease/SCA3 patients and diverse normal populations from eastern India. Acta Neurol Scand. 2003, 108: 407-414. 10.1034/j.1600-0404.2003.00167.x.CrossRefPubMed
11.
Bauer PO, Zumrova A, Matoska V, Marikova T, Krilova S, Boday A, Singh B, Goetz P: Absence of spinocerebellar ataxia type 3/Machado-Joseph disease within ataxic patients in the Czech population. Eur J Neurol. 2005, 12: 851-857. 10.1111/j.1468-1331.2005.01090.x.CrossRefPubMed
12.
Saleem Q, Choudhry S, Mukerji M, Bashyam L, Padma MV, Chakravarthy A, Maheshwari MC, Jain S, Brahmachari SK: Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum Genet. 2000, 106: 179-187. 10.1007/s004390051026.CrossRefPubMed
13.
Storey E, du Sart D, Shaw JH, Lorentzos P, Kelly L, McKinley Gardner RJ, Forrest SM, Biros I, Nicholson GA: Frequency of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 in Australian Patients with Spinocerebellar Ataxia. Am J Med Genet. 2000, 95: 351-357. 10.1002/1096-8628(20001211)95:4<351::AID-AJMG10>3.0.CO;2-R.CrossRefPubMed
14.
Stevanin G, Lebre AS, Mathieux C, Cancel G, Abbas N, Didierjean O, Dürr A, Trottier Y, Agid Y, Brice A: Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intrageneic polymorphisms, one of which, X359Y, affects the stop codon. Am J Hum Genet. 1997, 60: 1548-1552. 10.1016/S0002-9297(07)64251-7.CrossRefPubMedPubMedCentral
15.
Wu YR, Lin HY, Chen CM, Gwinn-Hardy K, Ro LS, Wang YC, Li SH, Hwang JC, Fang K, Hsieh-Li HM, Li ML, Tung LC, Su MT, Lu KT, Lee-Chen GJ: Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. Clin Genet. 2004, 65: 209-214. 10.1111/j.0009-9163.2004.00213.x.CrossRefPubMed
16.
Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Júnior W, Maciel JA, Jerin S, Sack G, Andermann E, Sudarsky L, Rosenberg R, MacLeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA: Frequency of spinocerebellar ataxia type1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology. 1996, 46: 214-218.CrossRefPubMed
17.
Trott A, Jardim LB, Ludwig HT, Saute JAM, Artigalas O, Kieling C, Wanderley HYC, Rieder CRM, Monte TL, Socal M, Alonso I, Ferro A, Carvalho T, do Ceu Moreira M, Mendonca P, Ferreirinha F, Silveira I, Sequeiros J, Giugliani R, Saraiva-Pereira ML: Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings. Clin Genet. 2006, 70: 173-176. 10.1111/j.1399-0004.2006.00656.x.CrossRefPubMed
18.
Harding AE: Clinical features and classification of inherited ataxias. Adv Neurol. 1994, 61: 1-14.
19.
Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988, 16: 1215-10.1093/nar/16.3.1215.CrossRefPubMedPubMedCentral
20.
Wu ZY, Zhao GX, Chen WJ, Wang N, Wan B, Lin MT, Murong SX, Yu L: Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. J Mol Med. 2006, 84: 438-442. 10.1007/s00109-005-0036-y.CrossRefPubMed
21.
Limprasert P, Nouri N, Heyman RA, Nopparatana C, Kamonsilp M, Deininger PL, Keats BJ: Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats. Hum Mol Genet. 1996, 5: 207-213. 10.1093/hmg/5.2.207.CrossRefPubMed
22.
Jiang M, Jin CL, Lin CK, Qiu GR, Liu ZL, Wang CX, Sun KL: Analysis and application of SCA1 and SCA3/MJD gene CAG repeats in Han population in Northeastern China. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004, 21: 83-85. in ChinesePubMed
23.
Jiang H, Tang BS, Xu B, Zhao GH, Shen L, Tang JG, Li QH, Xia K: 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: 837-843.
24.
Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, Ouyang S, Xia J: Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol. 2000, 57: 540-544. 10.1001/archneur.57.4.540.CrossRefPubMed
25.
Zhou YX, Qiao WH, Gu WH, Xie H, Tang BS, Zhou LS, Yang BX, Takiyama Y, Tsuji S, He HY, Deng CX, Goldfarb LG, Wang GX: Spinocerebellar ataxia type 1 in China:molecular analysis and genotypephenotype correlation in 5 families. Arch Neurol. 2001, 58: 789-794. 10.1001/archneur.58.5.789.CrossRefPubMed
26.
Soong BW, Lu YC, Choo KB, Lee HY: Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Arch Neurol. 2001, 58: 1105-1109. 10.1001/archneur.58.7.1105.CrossRef
27.
Tsai HF, Liu CS, Leu TM, Wen FC, Lin SJ, Liu CC, Yang DK, Li C, Hsieh M: Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan. Acta Neurol Scand. 2004, 109: 355-360. 10.1046/j.1600-0404.2003.00229.x.CrossRefPubMed
28.
Zhao Y, Tan EK, Law HY, Yoon CS, Wong MC, Ng I: Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore. Clin Genet. 2002, 62: 478-481. 10.1034/j.1399-0004.2002.620610.x.CrossRefPubMed
29.
Kumagai Y, Sugiura Y, Shimoji S, Kumagai T, Tochikubo S, Yamamoto T: Incidence of genetic subgroups of hereditary spinocerebellar ataxia in Fukushima Prefecture. Tohoku J Exp Med. 2001, 195: 85-91. 10.1620/tjem.195.85.CrossRefPubMed
30.
Maruyama H, Izumi Y, Morino H, Oda M, Toji H, Nakamura S, Kawakami H: Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1286 Japanese patients. Am J Med Genet. 2002, 114: 578-583. 10.1002/ajmg.10514.CrossRefPubMed
31.
Basri R, Yabe I, Soma H, Sasaki H: Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. J Hum Genet. 2007, 52: 848-855. 10.1007/s10038-007-0182-x.CrossRefPubMed
32.
Matsumura R, Futamura N, Ando N, Ueno S: Frequency of spinocerebellar ataxia mutation in the Kinki district of Japan. Acta Neurol Scand. 2003, 107: 38-41. 10.1034/j.1600-0404.2003.01347.x.CrossRefPubMed
33.
Onodera Y, Aoki M, Tsuda T, Kato H, Nagata T, Kameya T, Abe K, Itoyama Y: High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan. J Neurol Sci. 2000, 178: 153-158. 10.1016/S0022-510X(00)00390-7.CrossRefPubMed
34.
Hayashi M, Adachi Y, Mori M, Nakano T, Nakashima K: Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebel lar ataxia in western Japan. Acta Neurol Scand. 2007, 116: 123-127. 10.1111/j.1600-0404.2007.00815.x.CrossRefPubMed
35.
Shimizu Y, Yoshida K, Okano T, Ohara S, Hashimoto T, Fukushima Y, Ikeda S: Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. J Hum Genet. 2004, 49: 610-616. 10.1007/s10038-004-0196-6.CrossRefPubMed
36.
Sura T, Eu-Ahsunthornwattana J, Youngcharoen S, Busabaratana M, Dejsuphong D, Trachoo O, Theerasasawat S, Tunteeratum A, Noparutchanodom C, Tunlayadechanont S: Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?. J Hum Genet. 2009, 54: 284-288. 10.1038/jhg.2009.27.CrossRefPubMed
37.
Jin DK, Oh MR, Song SM, Koh SW, Lee M, Kim GM, Lee WY, Chung CS, Lee KH, Im JH, Lee MJ, Kim JW, Lee MS: Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia. J Neurol. 1999, 246: 207-210. 10.1007/s004150050335.CrossRefPubMed
38.
Lee WY, Jin DK, Oh MR, Lee JE, Song SM, Lee EA, Kim GM, Chung JS, Lee KH: Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients. Arch Neurol. 2003, 60: 858-863. 10.1001/archneur.60.6.858.CrossRefPubMed
39.
Chakravarty A, Mukherjee SC: Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal-an Eastern Indian state. Acta Neurol Scand. 2002, 105: 202-208. 10.1034/j.1600-0404.2002.1o054.x.CrossRefPubMed
40.
Krishna N, Mohan S, Yashavantha BS, Rammurthy A, Kiran Kumar HB, Mittal U, Tyagi S, Mukerji M, Jain S, Pal PK, Purushottam M: SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in southern India. Indian J Med Res. 2007, 126: 465-470.PubMed
41.
Alluri RV, Komandur S, Wagheray A, Chaudhuri JR, Sitajayalakshmi, Meena AK, Jabeen A, Chawda K, Subhash K, Krishnaveni A, Hasan Q: Molecular analysis of CAG repeats at five different spinocerebellar ataxia loci: correlation and alternative explanations for disease pathogenesis. Mol Cells. 2007, 24: 338-342.PubMed
42.
Srivastava AK, Choudhry S, Gopinath MS, Roy S, Tripathi M, Brahmachari SK, Jain S: Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol. 2001, 50: 796-800. 10.1002/ana.10048.CrossRefPubMed
43.
Sinha KK, Worth PF, Jha DK, Sinha S, Stinton VJ, Davis MB, Wood NW, Sweeney MG, Bhatia KP: Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India. J Neurol Neurosurg Psychiatr. 2004, 75: 448-452. 10.1136/jnnp.2002.004895.CrossRefPubMedPubMedCentral
44.
Silveira I, Miranda C, Guimarães L, Moreira MC, Alonso I, Mendonça P, Ferro A, Pinto-Basto J, Coelho J, Ferreirinha F, Poirier J, Parreira E, Vale J, Januário C, Barbot C, Tuna A, Barros J, Koide R, Tsuji S, Holmes SE, Margolis RL, Jardim L, Pandolfo M, Coutinho P, Sequeiros J: Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol. 2002, 59: 623-629. 10.1001/archneur.59.4.623.CrossRefPubMed
45.
Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen JT, Riess O: Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?. Ann Neurol. 1997, 42: 924-932. 10.1002/ana.410420615.CrossRefPubMed
46.
Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, Chneiweiss H, Benomar A, Lyon-Caen O, Julien J, Serdaru M, Penet C, Agid Y, Brice A: Spinocerebellar ataxia 3 and Machado- Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol. 1996, 39: 490-499. 10.1002/ana.410390411.CrossRefPubMed
47.
Warrenburg van de BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, Maat-Kievit JA, Dooijes D, Notermans NC, Lindhout D, Knoers NV, Kremer HP: Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology. 2002, 58: 702-708.CrossRefPubMed
48.
Ranum LP, Lundgren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT: Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet. 1995, 57: 603-608.PubMedPubMedCentral
49.
Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V: Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group. Hum Genet. 1999, 104: 516-522. 10.1007/s004390050997.CrossRefPubMed
50.
Alonso E, Martínez-Ruano L, De Biase I, Mader C, Ochoa A, Yescas P, Gutiérrez R, White M, Ruano L, Fragoso-Benítez M, Ashizawa T, Bidichandani SI, Rasmussen A: Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord. 2007, 22: 1050-1053. 10.1002/mds.21470.CrossRefPubMed
51.
Bryer A, Krause A, Bill P, Davids V, Bryant D, Butler J, Heckmann J, Ramesar R, Greenberg J: The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003, 216: 47-54. 10.1016/S0022-510X(03)00209-0.CrossRefPubMed
52.
Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F: Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol. 2004, 61: 727-733. 10.1001/archneur.61.5.727.CrossRefPubMed
53.
Leggo J, Dalton A, Morrison PJ, Dodge A, Connarty M, Kotze MJ, Rubinsztein DC: Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J Med Genet. 1997, 34: 982-985. 10.1136/jmg.34.12.982.CrossRefPubMedPubMedCentral
54.
Dragasević NT, Culjković B, Klein C, Ristić A, Keckarević M, Topisirović I, Vukosavić S, Svetel M, Kock N, Stefanova E, Romac S, Kostić VS: Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients. Mov Disord. 2006, 21: 187-191. 10.1002/mds.20687.CrossRefPubMed
55.
Juvonen V, Hietala M, Kairisto V, Savontaus ML: The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population. Acta Neurol Scand. 2005, 111: 154-162. 10.1111/j.1600-0404.2005.00349.x.CrossRefPubMed
56.
Koht J, Tallaksen CM: Cerebellar ataxia in the eastern and southern parts of Norway. Acta Neurol Scand Suppl. 2007, 187: 76-79. 10.1111/j.1600-0404.2007.00853.x.CrossRefPubMed
57.
Maciel P, Gaspar C, Guimarães L, Goto J, Lopes-Cendes I, Hayes S, Arvidsson K, Dias A, Sequeiros J, Sousa A, Rouleau GA: Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract. Eur J Hum Genet. 1999, 7: 147-156. 10.1038/sj.ejhg.5200264.CrossRefPubMed
58.
Lima M, Costa MC, Montiel R, Ferro A, Santos C, Silva C, Bettencourt C, Sousa A, Sequeiros J, Coutinho P, Maciel P: Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal. Hum Hered. 2005, 60: 156-163. 10.1159/000090035.CrossRefPubMed
59.
Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, Sequeiros J: Asian origin for the worldwidespread mutational event in Machado-Joseph disease. Arch Neurol. 2007, 64: 1502-1508. 10.1001/archneur.64.10.1502.CrossRefPubMed
60.
Shibata-Hamaguchi A, Ishida C, Iwasa K, Yamada M: Prevalence of spinocerebellar degenerations in the Hokuriku district in Japan. Neuroepidemiology. 2009, 32: 176-183. 10.1159/000195686.CrossRefPubMed
Metadata
Title
High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia
Authors
Shi-Rui Gan
Sheng-Sheng Shi
Jian-Jun Wu
Ning Wang
Gui-Xian Zhao
Sheng-Tong Weng
Shen-Xing Murong
Chuan-Zhen Lu
Zhi-Ying Wu
Publication date
01-12-2010
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2010
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-11-47

Other articles of this Issue 1/2010

BMC Medical Genetics 1/2010 Go to the issue

Research article

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

Research article

The G-Protein β3 subunit 825 TT genotype is associated with epigastric pain syndrome-like dyspepsia

Research article

Novel deletion alleles carrying CYP21A1P/A2chimeric genes in Brazilian patients with 21-hydroxylase deficiency

Research article

Toll-like receptor gene polymorphisms are associated with susceptibility to graves' ophthalmopathy in Taiwan males

Research article

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

Research article

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports