Archives of neurology · 2005
Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease.
Сравнительное исследованиеСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Gispert Suzana, Trenkwalder Claudia, Mota-Vieira Luisa, Kostic Vladimir, Auburger Georg
Аннотация
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.
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.