|
|
||||||||
From the Laboratory of Neurogenetics (Drs. Hague, Hardy, and A.B. Singleton, J. Johnson, M. Hanson, E.W. Evans, and D.G. Hernandez), National Institute on Aging, NIH; Neurogenetics Branch (Drs. Ravina and Gwinn-Hardy, A.A. Singleton), National Institute of Neurological Disorders and Stroke, NIH; and Genetic Diseases Research Branch (Dr. Nussbaum, A. McInerney-Leo), National Human Genome Research Institute, NIH, Bethesda, MD; MRC Building, Institute for the Health of the Elderly (Dr. Morris, A. Gibson, K.E. Wilson), Wolfson Research Centre (Drs. McKeith and Burn), and Institute of Human Genetics, International Centre for Life (Dr. Morris, A. Gibson), University of Newcastle upon Tyne, UK; Departments of Neurology (Dr. Burn) and Neuropathology (Drs. Ryu, Perry, and Jaros), Newcastle General Hospital, Newcastle upon Tyne, UK; Movement Disorders Unit, Department of Neurology (Drs. Gallardo and Weiser), Hospital Universitario de Caracas, Venezuela; and Department of Neurology (Drs. Hellstrom, Eerola, and Tienari), Helsinki University Central Hospital and University of Helsinki, Biomedicum-Helsinki, Neuroscience Programme, Finland.
Address correspondence and reprint requests to Dr. Andrew Singleton, Laboratory of Neurogenetics, National Institute on Aging, NIH, Building 10, Room 6C103, MSC1589, Bethesda, MD 20892; e-mail: singleta{at}mail.nih.gov
The authors recently have shown that triplication of the
-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.
Received December 9, 2003. Accepted in final form March 12, 2004.
Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the August 10 issue to find the title link for this article.
This article has been cited by other articles:
![]() |
P. Ibanez, S. Lesage, S. Janin, E. Lohmann, F. Durif, A. Destee, A.-M. Bonnet, C. Brefel-Courbon, S. Heath, D. Zelenika, et al. {alpha}-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism: Frequency, Phenotype, and Mechanisms Arch Neurol, January 1, 2009; 66(1): 102 - 108. [Abstract] [Full Text] [PDF] |
||||
![]() |
N. Brueggemann, P. Odin, A. Gruenewald, V. Tadic, J. Hagenah, G. Seidel, K. Lohmann, C. Klein, A. Djarmati, B. S. Jeon, et al. {alpha}-Synuclein gene duplication is present in sporadic Parkinson disease Neurology, October 14, 2008; 71(16): 1294 - 1294. [Full Text] [PDF] |
||||
![]() |
J. Theuns and C. Van Broeckhoven {alpha}-Synuclein gene duplications in sporadic Parkinson disease Neurology, January 1, 2008; 70(1): 7 - 9. [Full Text] [PDF] |
||||
![]() |
V. Bogaerts, S. Engelborghs, S. Kumar-Singh, D. Goossens, B. Pickut, J. van der Zee, K. Sleegers, K. Peeters, J.-J. Martin, J. Del-Favero, et al. A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder Brain, September 1, 2007; 130(9): 2277 - 2291. [Abstract] [Full Text] [PDF] |
||||
![]() |
I. G. McKeith, D. W. Dickson, J. Lowe, M. Emre, J. T. O'Brien, H. Feldman, J. Cummings, J. E. Duda, C. Lippa, E. K. Perry, et al. Diagnosis and management of dementia with Lewy bodies: Third report of the DLB consortium Neurology, December 27, 2005; 65(12): 1863 - 1872. [Abstract] [Full Text] [PDF] |
||||
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |