| Literature DB >> 15304594 |
J Johnson1, S M Hague, M Hanson, A Gibson, K E Wilson, E W Evans, A A Singleton, A McInerney-Leo, R L Nussbaum, D G Hernandez, M Gallardo, I G McKeith, D J Burn, M Ryu, O Hellstrom, B Ravina, J Eerola, R H Perry, E Jaros, P Tienari, R Weiser, K Gwinn-Hardy, C M Morris, J Hardy, A B Singleton.
Abstract
The authors recently have shown that triplication of the alpha-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.Entities:
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Year: 2004 PMID： 15304594 DOI： 10.1212/01.wnl.0000133401.09043.44
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910