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Failure to Find  -Synuclein Gene Dosage Changes in 190 Patients With Familial Parkinson Disease
Suzana Gispert, PhD;
Claudia Trenkwalder, MD;
Luisa Mota-Vieira, PhD;
Vladimir Kostic, MD;
Georg Auburger, MD
Arch Neurol. 2005;62:96-98.
Background Recently, a triplication of the  -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 -synuclein gene is pres-ent 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 -Synuclein gene dosage values measured with real-time polymerase chain reaction.
Results None of the samples showed -synuclein triplication, duplication, or deletion.
Conclusion Alterations in -synuclein gene dosage are rare in familial PD.
Author Affiliations: From the Institute for Experimental Neurobiology (Dr Gispert) and Section of Molecular Neurogenetics, Clinic for Neurology (Dr Auburger), University Hospital, Frankfurt/Main, Germany; Paracelsus Elena Clinic, Kassel, Germany (Dr Trenkwalder); Genetics and Molecular Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, Azores, Portugal (Dr Mota-Vieira); and Institute of Neurology, Clinical Center at Serbia, Belgrade, Yugoslavia (Dr Kostic).
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