Data di Pubblicazione:
2018
Abstract:
SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public population databases and PD case-control data sets to determine their true pathogenicity. We found that 1 of the 6 reported SNCA mutations, His50Gln, was consistently identified in large population databases, and no enrichment was evident in PD cases compared to controls. These results suggest that His50Gln is probably not a pathogenic variant. This information is important to provide counseling for His50Gln carriers and has implications for the interpretation of His50Gln α-synuclein functional investigations.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
H50Q; His50Gln; Parkinson's disease; SNCA
Elenco autori:
Blauwendraat, C.; Kia, D. A.; Pihlstrom, L.; Gan-Or, Z.; Lesage, S.; Gibbs, J. R.; Ding, J.; Alcalay, R. N.; Hassin-Baer, S.; Pittman, A. M.; Brooks, J.; Edsall, C.; Chung, S. J.; Goldwurm, S.; Toft, M.; Schulte, C.; Hernandez, D.; Singleton, A. B.; Nalls, M. A.; Brice, A.; Scholz, S. W.; Wood, N. W.; Noyce, A. J.; Tucci, A.; Charlesworth, G.; Tan, M.; Houlden, H.; Morris, H. R.; Plun-Favreau, H.; Holmans, P.; Hardy, J.; Bras, J. M.; Quinn, J.; Mok, K. Y.; Billingsley, K.; Lewis, P.; Guerreiro, R.; Lovering, R.; Ogalla, R. D.; R'Bibo, L.; Ryten, M.; Escott-Price, V.; Chelban, V.; Foltynie, T.; Sheerin, U. -M.; Williams, N.; Danjou, F.; Corvol, J. -C.; Martinez, M.; Giri, A.; Oehmig, A.; Brockmann, K.; Simon-Sanchez, J.; Heutink, P.; Rizzu, P.; Sharma, M.; Gasser, T.; Nicolas, A.; Cookson, M. R.; Bandres-Ciga, S.; Faghri, F.; Shulman, J. M.; Robak, L.; Lubbe, S.; Finkbeiner, S.; Mencacci, N. E.; Lungu, C.; Reed, X.; Rouleau, G. A.; Hilten, J. J.; Marinus, J.; Botia, J. A.; Clarimon, J.; Dols-Icardo, O.; Kulisevsky, J.; Pagonabarraga, J.; Marin, J.; Pihlstrom, L.; Koks, S.; Taba, P.; Kruger, R.; Wang, L.; Oertel, W.; Klein, C.; Mohamed, F.; Artaud, F.; Elbaz, A.; Corti, O.; Drouet, V.; Tesei, S.; Canesi, M.; Valente, E. M.; Petrucci, S.; Ginevrino, M.; Aasly, J.; Saetehaug, C.; Henriksen, S. P.; Orr-Urtreger, A.; Giladi, N.; Ferreira, J.; Guedes, L. C.; Bouca-Machado, R.; Coelho, M.; Rosa, M. M.; Tolosa, E.; Fernandez-Santiago, R.; Ezquerra, M.; Marti, M. J.; May, P.; Glaab, E.; Balling, R.
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