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  A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

Sharma, M., Ioannidis, J. P., Aasly, J. O., Annesi, G., Brice, A., Bertram, L., et al. (2012). A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. Journal of Medical Genetics (London), 49(11), 721-726. doi:10.1136/jmedgenet-2012-101155.

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Sharma, M., Author
Ioannidis, J. P., Author
Aasly, J. O., Author
Annesi, G., Author
Brice, A., Author
Bertram, L.1, Author           
Bozi, M., Author
Barcikowska, M., Author
Crosiers, D., Author
Clarke, C. E., Author
Facheris, M. F., Author
Farrer, M., Author
Garraux, G., Author
Gispert, S., Author
Auburger, G., Author
Vilarino-Guell, C., Author
Hadjigeorgiou, G. M., Author
Hicks, A. A., Author
Hattori, N., Author
Jeon, B. S., Author
Jamrozik, Z., AuthorKrygowska-Wajs, A., AuthorLesage, S., AuthorLill, C. M.1, Author           Lin, J. J., AuthorLynch, T., AuthorLichtner, P., AuthorLang, A. E., AuthorLibioulle, C., AuthorMurata, M., AuthorMok, V., AuthorJasinska-Myga, B., AuthorMellick, G. D., AuthorMorrison, K. E., AuthorMeitnger, T., AuthorZimprich, A., AuthorOpala, G., AuthorPramstaller, P. P., AuthorPichler, I., AuthorPark, S. S., AuthorQuattrone, A., AuthorRogaeva, E., AuthorRoss, O. A., AuthorStefanis, L., AuthorStockton, J. D., AuthorSatake, W., AuthorSilburn, P. A., AuthorStrom, T. M., AuthorTheuns, J., AuthorTan, E. K., AuthorToda, T., AuthorTomiyama, H., AuthorUitti, R. J., AuthorVan Broeckhoven, C., AuthorWirdefeldt, K., AuthorWszolek, Z., AuthorXiromerisiou, G., AuthorYomono, H. S., AuthorYueh, K. C., AuthorZhao, Y., AuthorGasser, T., AuthorMaraganore, D., AuthorKrüger, R., Author more..
Affiliations:
1Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1479655              

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 Abstract: BACKGROUND: Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive. METHODS AND RESULTS: We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any significant increased risk for p.Leu774Met and p.Gly51Ser in our cohort. CONCLUSIONS: Our study apart from identifying the p.Asp620Asn variant in familial cases also identified it in idiopathic Parkinson disease cases, and thus provides genetic evidence for a role of p.Asp620Asn in Parkinson disease in different populations worldwide.

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Language(s): eng - English
 Dates: 2012-09-072012-11
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1136/jmedgenet-2012-101155
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Title: Journal of Medical Genetics (London)
  Other : J Med Genet
Source Genre: Journal
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Publ. Info: London : British Medical Association
Pages: - Volume / Issue: 49 (11) Sequence Number: - Start / End Page: 721 - 726 Identifier: ISSN: 0022-2593
CoNE: https://pure.mpg.de/cone/journals/resource/954925415940