SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies

Johnson, J., Hague, S. M., Hanson, M., Gibson, A., Wilson, K. E., Evans, E. W., Singleton, A. A., , Nussbaum, R. L., Hernandez, D. G., Gallardo, M., McKeith, I. G., Burn, D. J., Ryu, M., Hellstrom, O., Ravina, B., Eerola, J., Perry, R. H., Jaros, E., Tienari, P., Weiser, R., Gwinn-Hardy, K., Morris, C. M., Hardy, J., & Singleton, A. B. (2004) SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology, 63(3), pp. 554-556.

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Description

The authors recently have shown that triplication of the alpha-synuclein gene (SNCA) can cause Parkinson disease (PD) and diffuse Lewy body disease within the same kindred. The authors assessed 101 familial PD probands, 325 sporadic PD cases, 65 patients with dementia with Lewy bodies, and 366 neurologically normal control subjects for SNCA multiplication. The authors did not identify any subjects with multiplication of SNCA and conclude this mutation is a rare cause of disease.

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73 citations in Scopus
51 citations in Web of Science®
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ID Code: 110209
Item Type: Contribution to Journal (Journal Article)
Refereed: Yes
ORCID iD:
McInerney-Leo, A.orcid.org/0000-0002-0059-5732
Keywords: Adult, Aged, 80 and over, Cohort Studies, DNA Mutational Analysis, England/epidemiology, European Continental Ancestry Group/genetics, Family Health, Female, Finland/epidemiology, Gene Dosage, *Gene Duplication, Gene Expression Regulation, Genetic Predisposition to Disease, Hispanic Americans/genetics, Humans, Lewy Body Disease/epidemiology/*genetics, Male, Middle Aged, Nerve Tissue Proteins/*genetics/physiology, Parkinson Disease/epidemiology/*genetics, Synucleins, United States/epidemiology, alpha-Synuclein
DOI: 10.1212/01.WNL.0000133401.09043.44
ISSN: 1526-632X
Pure ID: 60208682
Divisions: Past > QUT Faculties & Divisions > Faculty of Health
Current > Schools > School of Biomedical Sciences
Copyright Owner: Copyright 2004 American Academy of Neurology
Copyright Statement: This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au
Deposited On: 21 Aug 2017 02:34
Last Modified: 30 Mar 2024 07:22

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