Parkinson's Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Parkinson's Disease, including details on symptoms, treatment, genetics, medication.

Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease.

Gispert S, Trenkwalder C, Mota-Vieira L, Kostic V, Auburger G

Institute for Experimental Neurobiology, University Hospital, Theodor-Stern-Kai 7, 60590 Frankfurt/Main, Germany.

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.

Published 11 January 2005 in Arch Neurol, 62(1): 96-8.
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