Gispert S, Trenkwalder C, Mota-Vieira L, Kostic V, Auburger G.
Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease.
Arch Neurol. 2005 Jan;62(1):96-8.
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Further evidence that α-synuclein gene dosage mutations are rare
In this simple paper, the authors screened for SNCA gene dosage mutations in a cohort of 190 unrelated PD patients who presented with a positive family history. No mutations were identified, consistent with previous data (Johnson et al., 2004). While this shows that SNCA multiplication mutation is a rare cause of Parkinson disease, the authors argue that this does not preclude a role for α-synuclein expression and clearance in the pathogenesis of Parkinson disease. The authors briefly discuss the growing evidence that α-synuclein load is a factor in the etiology of PD.
Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB.
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.
Neurology. 2004 Aug 10;63(3):554-6.