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

Kiely, A P and Ling, H and Asi, Y T and Kara, E and Proukakis, C and Schapira, A H and Morris, H R and Lubbe, S and Limousin, P and Lewis, P A and Lees, A J and Quinn, N and Hardy, J and Love, S and Revesz, T and Houlden, H and Holton, J L (2015) Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Molecular Neurodegeneration, 10. p. 41.

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Abstract

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 the clinical and neuropathological hallmarks of G51D mutant SNCA-associated disease by the study of two additional cases from a further G51D SNCA kindred and to compare the features of this group with a SNCA duplication case and a H50Q SNCA mutation case.