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

被引：50

作者：

Johnson, J

Hague, SM

Hanson, M

Gibson, A

Wilson, KE

Evans, EW

Singleton, AA

McInerney-Leo, A

Nussbaum, RL

Hernandez, DG

Gallardo, M

McKeith, IG

Burn, DJ

Ryu, M

Hellstrom, O

Ravina, B

Eerola, J

Perry, RH

Jaros, E

Tienari, P

Weiser, R

Gwinn-Hardy, K

Morris, CM

Hardy, J

Singleton, AB

机构：

[1] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[2] NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

[3] NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

[4] Univ Newcastle Upon Tyne, Inst Hlth Elderly, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[5] Univ Newcastle Upon Tyne, Wolfson Res Ctr, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[6] Univ Newcastle Upon Tyne, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[7] Newcastle Gen Hosp, Dept Neurol, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

[8] Newcastle Gen Hosp, Dept Neuropathol, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

[9] Hosp Univ Caracas, Dept Neurol, Movement Disorders Unit, Caracas, Venezuela

[10] Univ Helsinki, Cent Hosp, Dept Neurol, FIN-00014 Helsinki, Finland

[11] Univ Helsinki, Biomedicum Helsinki, Neurosci Programme, FIN-00014 Helsinki, Finland

来源：

NEUROLOGY | 2004年 / 63卷 / 03期

关键词：

D O I：

10.1212/01.WNL.0000133401.09043.44

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors recently have shown that triplication of the a-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.

引用

页码：554 / 556

页数：3

共 10 条

[1]

*APPL BIOS CORP, 1997, US B ABI PRISM SEQ D, V2

[2] Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism [J].

Bonifati, V ;

Rizzu, P ;

van Baren, MJ ;

Schaap, O ;

Breedveld, GJ ;

Krieger, E ;

Dekker, MCJ ;

Squitieri, F ;

Ibanez, P ;

Joosse, M ;

van Dongen, JW ;

Vanacore, N ;

van Swieten, JC ;

Brice, A ;

Meco, G ;

van Duijn, CM ;

Oostra, BA ;

Heutink, P .

SCIENCE, 2003, 299 (5604) :256-259

[3] WHAT FEATURES IMPROVE THE ACCURACY OF CLINICAL-DIAGNOSIS IN PARKINSONS-DISEASE - A CLINICOPATHOLOGICAL STUDY [J].

HUGHES, AJ ;

BENSHLOMO, Y ;

DANIEL, SE ;

LEES, AJ .

NEUROLOGY, 1992, 42 (06) :1142-1146

[4]

Ince PG, 1998, BRAIN PATHOL, V8, P299

[5] Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism [J].

Kitada, T ;

Asakawa, S ;

Hattori, N ;

Matsumine, H ;

Yamamura, Y ;

Minoshima, S ;

Yokochi, M ;

Mizuno, Y ;

Shimizu, N .

NATURE, 1998, 392 (6676) :605-608

[6] Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease [J].

Krüger, R ;

Kuhn, W ;

Müller, T ;

Woitalla, D ;

Graeber, M ;

Kösel, S ;

Przuntek, H ;

Epplen, JT ;

Schöls, L ;

Riess, O .

NATURE GENETICS, 1998, 18 (02) :106-108

[7] Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): Report of the consortium on DLB international workshop [J].

McKeith, IG ;

Galasko, D ;

Kosaka, K ;

Perry, EK ;

Dickson, DW ;

Hansen, LA ;

Salmon, DP ;

Lowe, J ;

MIrra, SS ;

Byrne, EJ ;

Lennox, G ;

Quinn, NP ;

Edwardson, JA ;

Ince, PG ;

Bergeron, C ;

Burns, A ;

Miller, BL ;

Lovestone, S ;

Collerton, D ;

Jansen, ENH ;

Ballard, C ;

deVos, RAI ;

Wilcock, GK ;

Jellinger, KA ;

Perry, RH .

NEUROLOGY, 1996, 47 (05) :1113-1124

[8] Familial aggregation of Parkinson disease - A comparative study of early-onset and late-onset disease [J].

Payami, H ;

Zareparsi, S ;

James, D ;

Nutt, J .

ARCHIVES OF NEUROLOGY, 2002, 59 (05) :848-850

[9] Mutation in the alpha-synuclein gene identified in families with Parkinson's disease [J].

Polymeropoulos, MH ;

Lavedan, C ;

Leroy, E ;

Ide, SE ;

Dehejia, A ;

Dutra, A ;

Pike, B ;

Root, H ;

Rubenstein, J ;

Boyer, R ;

Stenroos, ES ;

Chandrasekharappa, S ;

Athanassiadou, A ;

Papapetropoulos, T ;

Johnson, WG ;

Lazzarini, AM ;

Duvoisin, RC ;

DiIorio, G ;

Golbe, LI ;

Nussbaum, RL .

SCIENCE, 1997, 276 (5321) :2045-2047

[10] α-synuclein locus triplication causes Parkinson's disease [J].

Singleton, AB ;

Farrer, M ;

Johnson, J ;

Singleton, A ;

Hague, S ;

Kachergus, J ;

Hulihan, M ;

Peuralinna, T ;

Dutra, A ;

Nussbaum, R ;

Lincoln, S ;

Crawley, A ;

Hanson, M ;

Maraganore, D ;

Adler, C ;

Cookson, MR ;

Muenter, M ;

Baptista, M ;

Miller, D ;

Blancato, J ;

Hardy, J ;

Gwinn-Hardy, K .

SCIENCE, 2003, 302 (5646) :841-841

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