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-Synuclein gene duplication is present in sporadic Parkinson disease

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.

Address correspondence and reprint requests to Dr Jeon, Department of Neurology, Seoul National University Hospital, Chongno-gu, Seoul, Korea brain{at}snu.ac.kr

Objective: -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--Fluoropropyl-2β-carbomethoxy-3β-(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.

Received December 29, 2006. Accepted in final form April 30, 2007.

Editorial, see page 7

e-Pub ahead of print on July 11, 2007, at www.neurology.org.

Supported by a grant of the Korea Health 21 R&D Project, Ministry of Health and Welfare, Republic of Korea (03-PJ10-PG13-GD01-0002), Seoul National University Hospital Research Grant, Seoul National University Bundang Hospital Research Fund (02-04-013), Seoul R&BD Program (10524).

Disclosure: The authors report no conflicts of interest.

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