Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

Kiely, A P; Ling, H; Asi, Y T; Kara, E; Proukakis, C; Schapira, A H; Morris, H R; Lubbe, S; Limousin, P; Lewis, P A; Lees, A J; Quinn, N; Hardy, J; Love, S; Revesz, T; Houlden, H; Holton, J L

doi:10.1186/s13024-015-0038-3

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Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation (2015)
Journal Article
Kiely, A. P., Ling, H., Asi, Y. T., Kara, E., Proukakis, C., Schapira, A. H., …Holton, J. L. (2015). Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Molecular Neurodegeneration, 10, 41. https://doi.org/10.1186/s13024-015-0038-3

We and others have described the neurodegenerative disorder caused by G51D SNCA mutation which shares characteristics of Parkinson’s disease (PD) and multiple system atrophy (MSA). The objective of this investigation was to extend the description of... Read More about Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.