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


METHODS
Retrospective recruitment of the largest families who were willing to cooperate with the study.


METHODS
Centers with specialization in movement disorders genetics.


METHODS
One hundred ninety unrelated patients with familial PD from Germany, Portugal, and Yugoslavia.


METHODS
Alpha-synuclein gene dosage values measured with real-time polymerase chain reaction.


RESULTS
None of the samples showed alpha-synuclein triplication, duplication, or deletion.


CONCLUSIONS
Alterations in alpha-synuclein gene dosage are rare in familial PD.
Gispert
Suzana
S
Institute for Experimental Neurobiology, University Hospital, Theodor-Stern-Kai 7, 60590 Frankfurt/Main, Germany.
Trenkwalder
Claudia
C
Mota-Vieira
Luisa
L
Kostic
Vladimir
V
Auburger
Georg
G
D000328:Adult; D000368:Aged; D005091:Exons; D005192:Family Health; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis; D012189:Retrospective Studies; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D051843:Synucleins; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein