Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease |
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Authors: | Gispert Suzana Trenkwalder Claudia Mota-Vieira Luisa Kostic Vladimir Auburger Georg |
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Affiliation: | Institute for Experimental Neurobiology, University Hospital, Theodor-Stern-Kai 7, 60590 Frankfurt/Main, Germany. |
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Abstract: | BACKGROUND: Recently, a triplication of the alpha-synuclein locus was found associated with autosomal dominant Parkinson disease in a large family. OBJECTIVE: To determine whether a triplication or some other dosage alteration in the alpha-synuclein gene is present in one or more patients with familial PD in a large multinational collective. DESIGN: Retrospective recruitment of the largest families who were willing to cooperate with the study. SETTING: Centers with specialization in movement disorders genetics. PATIENTS: One hundred ninety unrelated patients with familial PD from Germany, Portugal, and Yugoslavia. MAIN OUTCOME MEASURES: Alpha-synuclein gene dosage values measured with real-time polymerase chain reaction. RESULTS: None of the samples showed alpha-synuclein triplication, duplication, or deletion. CONCLUSION: Alterations in alpha-synuclein gene dosage are rare in familial PD. |
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