Article
α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?
Acta neuropathologica - 1 May 2013
Kiely Aoife P, Asi Yasmine T, Kara Eleanna, Limousin Patricia, Ling Helen, Lewis Patrick, Proukakis Christos, Quinn Niall, Lees Andrew J, Hardy John, Revesz Tamas, Houlden Henry, Holton Janice L
Abstract excerpt
We report a British family with young-onset Parkinson's disease (PD) and a G51D SNCA mutation that segregates with the disease. Family history was consistent with autosomal dominant inheritance as both the father and sister of the proband developed levodopa-responsive parkinsonism with onset in their late thirties. Clinical features show similarity to those seen in families with SNCA triplication and to cases of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.