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Published online before print July 11, 2007, doi:10.1212/01.wnl.0000271080.53272.c7)
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Received December 29, 2006
Accepted April 30, 2007

{alpha}-Synuclein gene duplication is present in sporadic Parkinson disease

T.-B. Ahn MD, PhD, S. Y. Kim BS, J. Y. Kim MD, PhD, S.-S. Park MD, PhD, D. S. Lee MD, PhD, H. J. Min BS, Y. K. Kim MD, PhD, S. E. Kim MD, PhD, J.-M. Kim MD, PhD, H.-J. Kim MD, J. Cho MD, PhD, and B. S. Jeon MD, PhD*

From the Department of Neurology (T.-B.A.), BK21 and MRC, Kyung Hee University College of Medicine, Department of Laboratory Medicine and Clinical Research Institute (S.Y.K., J.Y.K., S.-S.P., D.S.L., H.J.M.), Seoul National University Hospital, Departments of Nuclear Medicine (Y.K.K., S.E.K.) and Neurology (J.-M.K.), Seoul National University Bundang Hospital, Department of Neurology (J.C.), Seoul National University Boramae Hospital, and Department of Neurology and Movement Disorder Center (B.S.J.), Seoul National University Hospital, and Department of Neurology (H.-J.K.), Inje University Ilsan Paik Hospital, Korea.


* To whom correspondence should be addressed. E-mail: brain{at}snu.ac.kr.

ABSTRACT Objective: {alpha}-Synuclein gene (SNCA) multiplication was found in familial Parkinson disease (PD). We examined SNCA multiplication in patients with familial and sporadic PD and multiple system atrophy (MSA).

Methods: We screened 1,106 patients with parkinsonism (PD = 906, MSA = 200) for SNCA multiplication by multiplex PCR. Fluorescent in situ hybridization was done to confirm the multiplication. [123I]N-{omega}-Fluoropropyl-2{beta}-carbomethoxy-3{beta}-(4-iodophenyl)-tropane ([123I]FP-CIT) SPECT was done in the patients with SNCA multiplication and their family members.

Results: Three patients were identified as having SNCA duplication. One patient had a positive family history, and two patients were sporadic. Each patient had asymptomatic carriers in their families. The familial case had early onset parkinsonism with rapidly progressive course, cognitive impairment, and dysautonomia. Sporadic cases were more typical of PD. [123I]FP-CIT SPECT was abnormal in the patients and normal in the asymptomatic carriers.

Conclusion: SNCA multiplication is present in sporadic Parkinson disease (PD) and needs to be screened. Low penetrance, clinical heterogeneity, and normal dopamine transporter imaging in asymptomatic carriers may suggest the presence of other genetic modifiers or environmental triggers that play a role in the pathogenesis of PD due to SNCA duplication.




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Correspondence:

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alpha--Synuclein gene duplication is present in sporadic Parkinson disease
Norbert Brueggemann, et al.
Neurology Online, 26 Nov 2007 [Full text]
Reply from the authors
Beom S. Jeon, et al.
Neurology Online, 26 Nov 2007 [Full text]
{Alpha}- Synuclein gene duplication is present in sporadic Parkinson disease
André R. Troiano, et al.
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Beom S. Jeon, et al.
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