The evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease

Neurobiology of Aging

Volumn 35, Issue 7, 2014, Pages 1779.e17-1779.e21

  Yamashita, Chikara ^a   Tomiyama, Hiroyuki ^a   Funayama, Manabu ^a   Inamizu, Saeko ^b   Ando, Maya ^a   Li, Yuanzhe ^a   Yoshino, Hiroyo ^a   Araki, Takehisa ^b   Ichikawa, Tadashi ^c   Ehara, Yoshiro ^a   Ishikawa, Kinya ^d   Mizusawa, Hidehiro ^d   Hattori, Nobutaka ^a  

^a JUNTENDO UNIVERSITY   (Japan)

^b ATOMIC BOMB SURVIVORS HOSPITAL   (Japan)

^c Saitama Prefectural Rehabilitation Center   (Japan)

^d TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Ataxin 2; Intermediate length; Parkinson's disease; Polyglutamine; Trinucleotide repeat diseases

Indexed keywords

LEVODOPA; POLYGLUTAMINE; SELEGILINE;

ADOLESCENT; ADULT; AGED; ARTICLE; ATN1 GENE; ATXN1 GENE; ATXN2 GENE; ATXN3 GENE; ATXN7 GENE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT PARKINSON DISEASE; CACNA1A GENE; COHORT ANALYSIS; CONTROLLED STUDY; DEGENERATIVE DISEASE; FEMALE; GENE; GENE INTERACTION; GENE LOCATION; GENE STRUCTURE; GENETIC ANALYSIS; HTT GENE; HUMAN; HUMAN CELL; JAPANESE; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PATHOGENESIS; PHENOTYPE; POLYGLUTAMINE REPEAT; PRIORITY JOURNAL; TBP GENE;

ATAXIN-2; INTERMEDIATE LENGTH; PARKINSON'S DISEASE; POLYGLUTAMINE; TRINUCLEOTIDE REPEAT DISEASES;

ADULT; AGED; AGED, 80 AND OVER; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; PARKINSON DISEASE; PEPTIDES; REPETITIVE SEQUENCES, AMINO ACID;

EID: 85058204938     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2014.01.022     Document Type: Article

References (37)

1. Al-Ramahi I., Perez A.M., Lim J., Zhang M., Sorensen R., de Haro M., Branco J., Pulst S.M., Zoghbi H.Y., Botas J. dAtaxin-2 mediates expanded ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. PLoS Genet. 2007, 3:e234. 10.1371/journal.pgen.0030234.
2. Bertoni A., Giuliano P., Galgani M., Rotoli D., Ulianich L., Adornetto A., Santillo M.R., Porcellini A., Avvedimento V.E. Early and late events induced by polyQ-expanded proteins: identification of a common pathogenic property of polyQ-expanded proteins. J.Biol. Chem. 2011, 286:4727-4741. 10.1074/jbc.M110.156521.
3. Charles P., Camuzat A., Benammar N., Sellal F., Destee A., Bonnet A.M., Lesage S., Le Ber I., Stevanin G., Durr A., Brice A. Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?. Neurology 2007, 69:1970-1975. 10.1212/01.wnl.0000269323.21969.db.
4. Chen X., Burgoyne R.D. Identification of common genetic modifiers of neurodegenerative diseases from an integrative analysis of diverse genetic screens in model organisms. BMC Genomics 2012, 13:71. 10.1186/1471-2164-13-71.
5. Chen Y., Huang R., Yang Y., Chen K., Song W., Pan P., Li J., Shang H.F. Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis. Neurobiol. Aging 2011, 32:1925.e1-1925.e5. 10.1016/j.neurobiolaging.2011.05.015.
6. Dubourg O., Durr A., Cancel G., Stevanin G., Chneiweiss H., Penet C., Agid Y., Brice A. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann. Neurol. 1995, 37:176-180. 10.1002/ana.410370207.
7. Elden A.C., Kim H.J., Hart M.P., Chen-Plotkin A.S., Johnson B.S., Fang X., Armakola M., Geser F., Greene R., Lu M.M., Padmanabhan A., Clay-Falcone D., McCluskey L., Elman L., Juhr D., Gruber P.J., Rub U., Auburger G., Trojanowski J.Q., Lee V.M., Van Deerlin V.M., Bonini N.M., Gitler A.D. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010, 466:1069-1075. 10.1038/nature09320.
8. Furtado S., Farrer M., Tsuboi Y., Klimek M.L., de la Fuente-Fernandez R., Hussey J., Lockhart P., Calne D.B., Suchowersky O., Stoessl A.J., Wszolek Z.K. SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings. Neurology 2002, 59:1625-1627.
9. Furtado S., Payami H., Lockhart P.J., Hanson M., Nutt J.G., Singleton A.A., Singleton A., Bower J., Utti R.J., Bird T.D., de la Fuente-Fernandez R., Tsuboi Y., Klimek M.L., Suchowersky O., Hardy J., Calne D.B., Wszolek Z.K., Farrer M., Gwinn-Hardy K., Stoessl A.J. Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov. Disord. 2004, 19:622-629. 10.1002/mds.20074.
10. Gispert S., Kurz A., Waibel S., Bauer P., Liepelt I., Geisen C., Gitler A.D., Becker T., Weber M., Berg D., Andersen P.M., Kruger R., Riess O., Ludolph A.C., Auburger G. The modulation of amyotrophic lateral sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol. Dis. 2012, 45:356-361. 10.1016/j.nbd.2011.08.021.
11. Gwinn-Hardy K., Chen J.Y., Liu H.C., Liu T.Y., Boss M., Seltzer W., Adam A., Singleton A., Koroshetz W., Waters C., Hardy J., Farrer M. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology 2000, 55:800-805.
12. Hands S., Sinadinos C., Wyttenbach A. Polyglutamine gene function and dysfunction in the ageing brain. Biochim. Biophys. Acta 2008, 1779:507-521. 10.1016/j.bbagrm.2008.05.008.
13. Hughes A.J., Daniel S.E., Kilford L., Lees A.J. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J.Neurol. Neurosurg. Psychiatry 1992, 55:181-184.
14. Jardim L., Silveira I., Pereira M.L., do Ceu Moreira M., Mendonca P., Sequeiros J., Giugliani R. Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype. Acta Neurol. Scand. 2003, 107:211-214.
15. Kim J.M., Lee J.Y., Kim H.J., Kim J.S., Kim Y.K., Park S.S., Kim S.E., Jeon B.S. The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6. J.Neurol. Neurosurg. Psychiatry 2010, 81:529-532. 10.1136/jnnp.2008.166728.
16. Kim J.Y., Kim S.Y., Kim J.M., Kim Y.K., Yoon K.Y., Lee B.C., Kim J.S., Paek S.H., Park S.S., Kim S.E., Jeon B.S. Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism. Neurology 2009, 72:1385-1389. 10.1212/WNL.0b013e3181a18876.
17. Klein C., Schneider S.A., Lang A.E. Hereditary parkinsonism: Parkinson disease look-alikes-an algorithm for clinicians to "PARK" genes and beyond. Mov. Disord. 2009, 24:2042-2058. 10.1002/mds.22675.
18. Lee T., Li Y.R., Chesi A., Hart M.P., Ramos D., Jethava N., Hosangadi D., Epstein J., Hodges B., Bonini N.M., Gitler A.D. Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. Neurology 2011, 76:2062-2065. 10.1212/WNL.0b013e31821f4447.
19. Lee T., Li Y.R., Ingre C., Weber M., Grehl T., Gredal O., de Carvalho M., Meyer T., Tysnes O.B., Auburger G., Gispert S., Bonini N.M., Andersen P.M., Gitler A.D. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum. Mol. Genet. 2011, 20:1697-1700. 10.1093/hmg/ddr045.
20. Lessing D., Bonini N.M. Polyglutamine genes interact to modulate the severity and progression of neurodegeneration in Drosophila. PLoS Biol. 2008, 6:e29. 10.1371/journal.pbio.0060029.
21. Li Y., Sekine T., Funayama M., Li L., Yoshino H., Nishioka K., Tomiyama H., Hattori N. Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease. Neurobiol. Aging 2013, 10.1016/j.neurobiolaging.2013.09.019.
22. Lu C.S., Chang H.C., Kuo P.C., Liu Y.L., Wu W.S., Weng Y.H., Yen T.C., Chou Y.H. The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family. Parkinsonism Relat. Disord. 2004, 10:369-373. 10.1016/j.parkreldis.2004.03.009.
23. Lu C.S., Wu Chou Y.H., Kuo P.C., Chang H.C., Weng Y.H. The parkinsonian phenotype of spinocerebellar ataxia type 2. Arch. Neurol. 2004, 61:35-38. 10.1001/archneur.61.1.35.
24. Mitsui J., Mizuta I., Toyoda A., Ashida R., Takahashi Y., Goto J., Fukuda Y., Date H., Iwata A., Yamamoto M., Hattori N., Murata M., Toda T., Tsuji S. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch. Neurol. 2009, 66:571-576. 10.1001/archneurol.2009.72.
25. Payami H., Nutt J., Gancher S., Bird T., McNeal M.G., Seltzer W.K., Hussey J., Lockhart P., Gwinn-Hardy K., Singleton A.A., Singleton A.B., Hardy J., Farrer M. SCA2 may present as levodopa-responsive parkinsonism. Mov. Disord. 2003, 18:425-429. 10.1002/mds.10375.
26. Pulst S.M., Nechiporuk A., Nechiporuk T., Gispert S., Chen X.N., Lopes-Cendes I., Pearlman S., Starkman S., Orozco-Diaz G., Lunkes A., DeJong P., Rouleau G.A., Auburger G., Korenberg J.R., Figueroa C., Sahba S. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat. Genet. 1996, 14:269-276. 10.1038/ng1196-269.
27. Pulst S.M., Santos N., Wang D., Yang H., Huynh D., Velazquez L., Figueroa K.P. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. Brain 2005, 128(Pt 10):2297-2303. 10.1093/brain/awh586.
28. Ragothaman M., Sarangmath N., Chaudhary S., Khare V., Mittal U., Sharma S., Komatireddy S., Chakrabarti S., Mukerji M., Juyal R.C., Thelma B.K., Muthane U.B. Complex phenotypes in an Indian family with homozygous SCA2 mutations. Ann. Neurol. 2004, 55:130-133. 10.1002/ana.10815.
29. Ross O.A., Rutherford N.J., Baker M., Soto-Ortolaza A.I., Carrasquillo M.M., DeJesus-Hernandez M., Adamson J., Li M., Volkening K., Finger E., Seeley W.W., Hatanpaa K.J., Lomen-Hoerth C., Kertesz A., Bigio E.H., Lippa C., Woodruff B.K., Knopman D.S., White C.L., Van Gerpen J.A., Meschia J.F., Mackenzie I.R., Boylan K., Boeve B.F., Miller B.L., Strong M.J., Uitti R.J., Younkin S.G., Graff-Radford N.R., Petersen R.C., Wszolek Z.K., Dickson D.W., Rademakers R. Ataxin-2 repeat-length variation and neurodegeneration. Hum. Mol. Genet. 2011, 20:3207-3212. 10.1093/hmg/ddr227.
30. Sequeiros J., Seneca S., Martindale J. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur. J. Hum. Genet. 2010, 18:1188-1195. 10.1038/ejhg.2010.10.
31. Subramony S.H., Hernandez D., Adam A., Smith-Jefferson S., Hussey J., Gwinn-Hardy K., Lynch T., McDaniel O., Hardy J., Farrer M., Singleton A. Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov. Disord. 2002, 17:1068-1071. 10.1002/mds.10241.
32. Sun H., Satake W., Zhang C., Nagai Y., Tian Y., Fu S., Yu J., Qian Y., Chu J., Toda T. Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family. J.Hum. Genet. 2011, 56:330-334. 10.1038/jhg.2011.14.
33. Walker F.O. Huntington's disease. Lancet 2007, 369:218-228. 10.1016/S0140-6736(07) 60111-1.
34. Wang J.L., Xiao B., Cui X.X., Guo J.F., Lei L.F., Song X.W., Shen L., Jiang H., Yan X.X., Pan Q., Long Z.G., Xia K., Tang B.S. Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: genetic, clinical, and positron emission tomography findings. Mov. Disord. 2009, 24:2007-2011. 10.1002/mds.22727.
35. Wu Y.R., Lin H.Y., Chen C.M., Gwinn-Hardy K., Ro L.S., Wang Y.C., Li S.H., Hwang J.C., Fang K., Hsieh-Li H.M., Li M.L., Tung L.C., Su M.T., Lu K.T., Lee-Chen G.J. 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.
36. Xu Q., Jia D., Wang J., Guo J., Jiang H., Lei L., Shen L., Pan Q., Xia K., Yan X., Tang B. Genetic analysis of spinocerebellar ataxia type 17 in Parkinson's disease in Mainland China. Parkinsonism Relat. Disord. 2010, 16:700-702. 10.1016/j.parkreldis.2010.08.020.
37. Yun J.Y., Lee W.W., Kim H.J., Kim J.S., Kim J.M., Kim S.Y., Kim J.Y., Park S.S., Kim Y.K., Kim S.E., Jeon B.S. Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia. Parkinsonism Relat. Disord. 2011, 17:338-342. 10.1016/j.parkreldis.2011.01.015.