Recently, a triplication of the α-synuclein locus was found associated with autosomal dominant Parkinson disease in a large family.
To determine whether a triplication or some other dosage alteration in the α-synuclein gene is pres-ent in one or more patients with familial PD in a large multinational collective.
Retrospective recruitment of the largest families who were willing to cooperate with the study.
Centers with specialization in movement disorders genetics.
One hundred ninety unrelated patients with familial PD from Germany, Portugal, and Yugoslavia.
Main Outcome Measures
α-Synuclein gene dosage values measured with real-time polymerase chain reaction.
None of the samples showed α-synuclein triplication, duplication, or deletion.
Alterations in α-synuclein gene dosage are rare in familial PD.