Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276: 2045-7, 1997 (PubMed ID: 9197268)

Mutations

SNCA: (Ala53Thr)

ID: 1

Papadimitriou A, Veletza V, Hadjigeorgiou GM, Patrikiou A, Hirano M, Anastasopoulos I. Mutated alpha-synuclein gene in two Greek kindreds with familial PD: incomplete penetrance?. Neurology 52: 651-4, 1999 (PubMed ID: 10025809)

Mutations

SNCA: (Ala53Thr)

ID: 2

Athanassiadou A, Voutsinas G, Psiouri L, Leroy E, Polymeropoulos MH, Ilias A, Maniatis GM, Papapetropoulos T. Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein. Am J Hum Genet 65: 555-8, 1999 (PubMed ID: 10417297)

Mutations

SNCA: (Ala53Thr)

ID: 3

Scott WK, Yamaoka LH, Stajich JM, Scott BL, Vance JM, Roses AD, Pericak-Vance MA, Watts RL, Nance M, Hubble J, Koller W, Stern MB, Colcher A, Allen FH Jr, Hiner BC, Jankovic J, Ondo W, Laing NG, Mastaglia F, Goetz C, Pappert E, Small GW, Masterman D, Haines JL, Davies TL. The alpha-synuclein gene is not a major risk factor in familial Parkinson disease. Neurogenetics 2: 191-2, 1999 (PubMed ID: 10541595)

Mutations

SNCA: (Ala53Thr)

ID: 4

Spira PJ, Sharpe DM, Halliday G, Cavanagh J, Nicholson GA. Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. Ann Neurol 49: 313-9, 2001 (PubMed ID: 11261505)

Mutations

SNCA: (Ala53Thr)

ID: 5

Michell AW, Barker RA, Raha SK, Raha-Chowdhury R. A case of late onset sporadic Parkinson's disease with an A53T mutation in alpha-synuclein. J Neurol Neurosurg Psychiatry 76: 596-7, 2005 (PubMed ID: 15774457)

Mutations

SNCA: (Ala53Thr)

ID: 6

Ki CS, Stavrou EF, Davanos N, Lee WY, Chung EJ, Kim JY, Athanassiadou A. The Ala53Thr mutation in the alpha-synuclein gene in a Korean family with Parkinson disease. Clin Genet 71: 471-3, 2007 (PubMed ID: 17489854)

Mutations

SNCA: (Ala53Thr)

ID: 7

Choi JM, Woo MS, Ma HI, Kang SY, Sung YH, Yong SW, Chung SJ, Kim JS, Shin HW, Lyoo CH, Lee PH, Baik JS, Kim SJ, Park MY, Sohn YH, Kim JH, Kim JW, Lee MS, Lee MC, Kim DH, Kim YJ. Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics 9: 263-9, 2008 (PubMed ID: 18704525)

Mutations

SNCA: (Ala53Thr)
LRRK2: (Gly2385Arg)
PARK2: (ex2del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (Gln40Stop)
PINK1: (Gly32Arg) (Arg279His) (Asn367Ser) (Phe385Leu) (Lys520fs)

ID: 8

Puschmann A, Ross OA, Vilariño-Güell C, Lincoln SJ, Kachergus JM, Cobb SA, Lindquist SG, Nielsen JE, Wszolek ZK, Farrer M, Widner H, van Westen D, Hägerström D, Markopoulou K, Chase BA, Nilsson K, Reimer J, Nilsson C. A Swedish family with de novo alpha-synuclein A53T mutation: Evidence for early cortical dysfunction. Parkinsonism Relat Disord Epub: , 2009 (PubMed ID: 19632874)

Mutations

SNCA: (Ala53Thr)

ID: 379