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Lookup NU author(s): Kate Wilson, Professor Ian McKeith, Professor David BurnORCiD, Emeritus Professor Robert Perry, Dr Evelyn Jaros, Dr Christopher Morris
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The authors recently have shown that triplication of the α-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.
Author(s): 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
Publication type: Article
Publication status: Published
Journal: Neurology
Year: 2004
Volume: 63
Issue: 3
Pages: 554-556
ISSN (print): 0028-3878
ISSN (electronic): 1526-632X
Publisher: Lippincott Williams & Wilkins
URL: http://dx.doi.org/10.1212/01.WNL.0000133401.09043.44
DOI: 10.1212/01.WNL.0000133401.09043.44
PubMed id: 15304594
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