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

Pub. Date : 2015 Aug 27

PMID : 26306801






2 Functional Relationships(s)
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1 The H50Q SNCA mutation case had a clinical picture that mimicked late-onset idiopathic PD with a good and sustained levodopa response. Levodopa synuclein alpha Homo sapiens
2 The SNCA duplication case presented with a clinical phenotype of frontotemporal dementia with marked behavioural changes, pyramidal signs, postural hypotension and transiently levodopa responsive parkinsonism. Levodopa synuclein alpha Homo sapiens