Mutation analysis of the parkin and PINK1 genes in American Caucasian early-onset Parkinson disease families

Neuroscience Letters

Volumn 430, Issue 1, 2008, Pages 18-22

  Deng, Hao ^a,b   Le, Weidong ^a   Shahed, Joohi ^a   Xie, Wenjie ^a   Jankovic, Joseph ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Early onset Parkinson disease; Genetic counseling; Mutation; Parkin; PINK1

Indexed keywords

LEVODOPA; PARKIN; PHOSPHOTRANSFERASE; PTEN INDUCED PUTATIVE KINASE 1; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAUCASIAN; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; ONSET AGE; PARKINSON DISEASE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; AGE OF ONSET; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; PARKINSON DISEASE; PEDIGREE; PHENOTYPE; PROTEIN KINASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; UBIQUITIN-PROTEIN LIGASES; UNITED STATES;

EID: 37549011856     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2007.10.018     Document Type: Article

References (27)

1. Bertoli-Avella A.M., Giroud-Benitez J.L., Akyol A., Barbosa E., Schaap O., van der Linde H.C., Martignoni E., Lopiano L., Lamberti P., Fincati E., Antonini A., Stocchi F., Montagna P., Squitieri F., Marini P., Abbruzzese G., Fabbrini G., Marconi R., Dalla Libera A., Trianni G., Guidi M., De Gaetano A., Boff Maegawa G., De Leo A., Gallai V., de Rosa G., Vanacore N., Meco G., van Duijn C.M., Oostra B.A., Heutink P., and Bonifati V. Italian Parkinson Genetics Network, Novel parkin mutations detected in patients with early-onset Parkinson's disease. Mov. Disord. 20 (2005) 424-431
2. Capecci M., Passamonti L., Annesi F., Annesi G., Bellesi M., Candiano I.C., Ricciuti R., Iacoangeli M., Scerrati M., Zappia M., Tarantino P., De Marco E.V., Civitelli D., Carrideo S., Provinciali L., Ceravolo M.G., and Quattrone A. Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene. Mov. Disord. 19 (2004) 1450-1452
3. Deng H., Le W., Guo Y., Hunter C.B., Xie W., Huang M., and Jankovic J. Genetic analysis of LRRK2 mutations in patients with Parkinson disease. J. Neurol. Sci. 251 (2006) 102-106
4. Deng H., Le W., Guo Y., Hunter C.B., Xie W., and Jankovic J. Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation. Ann. Neurol. 57 (2005) 933-934
5. Deng H., Le W., Huang M., Xie W., Pan T., and Jankovic J. Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease. Neurosci. Lett. 419 (2007) 104-107
6. Deng H., Le W.D., Hunter C.B., Mejia N., Xie W.J., and Jankovic J. A family with Parkinson disease, essential tremor, bell palsy, and parkin mutations. Arch. Neurol. 64 (2007) 421-424
7. Deng H., Le W.D., Hunter C.B., Ondo W.G., Guo Y., Xie W.J., and Jankovic J. Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations. Arch. Neurol. 63 (2006) 273-277
8. Deng H., Xie W., Guo Y., Le W., and Jankovic J. Gene dosage analysis of alpha-synuclein (SNCA) in patients with Parkinson's disease. Mov. Disord. 21 (2006) 728-729
9. Djarmati A., Hedrich K., Svetel M., Schafer N., Juric V., Vukosavic S., Hering R., Riess O., Romac S., Klein C., and Kostic V. Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: parkin mutation frequency depends on ethnic origin of patients. Hum. Mutat. 23 (2004) 525
10. Foroud T., Uniacke S.K., Liu L., Pankratz N., Rudolph A., Halter C., Shults C., Marder K., Conneally P.M., and Nichols W.C. Parkinson Study Group, Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 60 (2003) 796-801
11. Gelb D.J., Oliver E., and Gilman S. Diagnostic criteria for Parkinson's disease. Arch. Neurol. 56 (1999) 33-39
12. Hattori N., Kitada T., Matsumine H., Asakawa S., Yamamura Y., Yoshino H., Kobayashi T., Yokochi M., Wang M., Yoritaka A., Kondo T., Kuzuhara S., Nakamura S., Shimizu N., and Mizuno Y. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann. Neurol. 44 (1998) 935-941
13. Kay D.M., Moran D., Moses L., Poorkaj P., Zabetian C.P., Nutt J., Factor S.A., Yu C.E., Montimurro J.S., Keefe R.G., Schellenberg G.D., and Payami H. Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Ann. Neurol. 61 (2007) 47-54
14. Kitada T., Asakawa S., Matsumine H., Hattori N., Shimura H., Minoshima S., Shimizu N., and Mizuno Y. Progress in the clinical and molecular genetics of familial parkinsonism. Neurogenetics 2 (2000) 207-218
15. Klein C., Djarmati A., Hedrich K., Schäfer N., Scaglione C., Marchese R., Kock N., Schüle B., Hiller A., Lohnau T., Winkler S., Wiegers K., Hering R., Bauer P., Riess O., Abbruzzese G., Martinelli P., and Pramstaller P.P. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur. J. Hum. Genet. 13 (2005) 1086-1093
16. Lincoln S.J., Maraganore D.M., Lesnick T.G., Bounds R., de Andrade M., Bower J.H., Hardy J.A., and Farrer M.J. Parkin variants in North American Parkinson's disease: cases and controls. Mov. Disord. 18 (2003) 1306-1311
17. Lucking C.B., Abbas N., Durr A., Bonifati V., Bonnet A.M., de Broucker T., De Michele G., Wood N.W., Agid Y., and Brice A. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. Lancet 352 (1998) 1355-1356
18. Lucking C.B., Durr A., Bonifati V., Vaughan J., De Michele G., Gasser T., Harhangi B.S., Meco G., Denefle P., Wood N.W., Agid Y., Brice A., French Parkinson's Disease Genetics Study Group, and European Consortium on Genetic Susceptibility in Parkinson's Disease. Association between early-onset Parkinson's disease and mutations in the parkin gene. N. Engl. J. Med. 342 (2000) 1560-1567
19. Maruyama M., Ikeuchi T., Saito M., Ishikawa A., Yuasa T., Tanaka H., Hayashi S., Wakabayashi K., Takahashi H., and Tsuji S. Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. Ann. Neurol. 48 (2000) 245-250
20. Nakaso K., Adachi Y., Yasui K., Sakuma K., and Nakashima K. Detection of compound heterozygous deletions in the parkin gene of fibroblasts in patients with autosomal recessive hereditary parkinsonism (PARK2). Neurosci. Lett. 400 (2006) 44-47
21. Poorkaj P., Moses L., Montimurro J.S., Nutt J.G., Schellenberg G.D., and Payami H. Parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism. BMC Neurol. 5 (2005) 4
22. Ramirez A., Heimbach A., Grundemann J., Stiller B., Hampshire D., Cid L.P., Goebel I., Mubaidin A.F., Wriekat A.L., Roeper J., Al-Din A., Hillmer A.M., Karsak M., Liss B., Woods C.G., Behrens M.I., and Kubisch C. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat. Genet. 38 (2006) 1184-1191
23. Sun M., Latourelle J.C., Wooten G.F., Lew M.F., Klein C., Shill H.A., Golbe L.I., Mark M.H., Racette B.A., Perlmutter J.S., Parsian A., Guttman M., Nicholson G., Xu G., Wilk J.B., Saint-Hilaire M.H., DeStefano A.L., Prakash R., Williamson S., Suchowersky O., Labelle N., Growdon J.H., Singer C., Watts R.L., Goldwurm S., Pezzoli G., Baker K.B., Pramstaller P.P., Burn D.J., Chinnery P.F., Sherman S., Vieregge P., Litvan I., Gillis T., MacDonald M.E., Myers R.H., and Gusella J.F. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch. Neurol. 63 (2006) 826-832
24. Tan E.K., and Jankovic J. Genetic testing in Parkinson's disease: promises and pitfalls. Arch. Neurol. 63 (2006) 1232-1237
25. Tan E.K., Shen H., Tan J.M., Lim K.L., Fook-Chong S., Hu W.P., Paterson M.C., Chandran V.R., Yew K., Tan C., Yuen Y., Pavanni R., Wong M.C., Puvan K., and Zhao Y. Differential expression of splice variant and wild-type parkin in sporadic Parkinson's disease. Neurogenetics 6 (2005) 179-184
26. Tan E.K., Yew K., Chua E., Puvan K., Shen H., Lee E., Puong K.Y., Zhao Y., Pavanni R., Wong M.C., Jamora D., de Silva D., Moe K.T., Woon F.P., Yuen Y., and Tan L. PINK1 mutations in sporadic early-onset Parkinson's disease. Mov. Disord. 21 (2006) 789-793
27. Valente E.M., Abou-Sleiman P.M., Caputo V., Muqit M.M., Harvey K., Gispert S., Ali Z., Del Turco D., Bentivoglio A.R., Healy D.G., Albanese A., Nussbaum R., González-Maldonado R., Deller T., Salvi S., Cortelli P., Gilks W.P., Latchman D.S., Harvey R.J., Dallapiccola B., Auburger G., and Wood N.W. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304 (2004) 1158-1160