Alpha‐synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees. Issue 6 (6th June 2013)

• Record Type: Journal Article
• Authors: Elia, Antonio E.; Petrucci, Simona; Fasano, Alfonso; Guidi, Marco; Valbonesi, Stefano; Bernardini, Laura; Consoli, Federica; Ferraris, Alessandro; Albanese, Alberto; Valente, Enza Maria
• Is Part Of: Movement disorders. Volume 28:Issue 6(2013)
• Page Start: 813
• Page End: 817
• Publication Date: 2013-06-06
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.25518
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <sec id="mds25518-sec-0001" sec-type="section"> <title>Background</title> <p>Multiplications of the <italic>SNCA</italic> gene that encodes alpha‐synuclein are a rare cause of autosomal dominant Parkinson's disease (PD).</p> </sec> <sec id="mds25518-sec-0002" sec-type="section"> <title>Methods</title> <p>Here, we describe 2 novel families in which there is autosomal dominant PD associated with <italic>SNCA</italic> duplication, and we compare the clinical features of all known patients carrying 3 or 4 <italic>SNCA</italic> copies.</p> </sec> <sec id="mds25518-sec-0003" sec-type="section"> <title>Results</title> <p>Affected members in family A presented with early onset PD that was variably associated with nonmotor features, such as dysautonomia, cognitive deficits, and psychiatric disturbances. In family B, the clinical presentation ranged from early onset PD‐dementia with psychiatric disturbances to late onset PD with mild cognitive impairment.</p> </sec> <sec id="mds25518-sec-0004" sec-type="section"> <title>Conclusions</title> <p>The presence of 4 <italic>SNCA</italic> copies is associated with a rich phenotype, characterized by earlier onset of motor and nonmotor features compared with patients who bear 3 <italic>SNCA</italic> copies. The clinical spectrum associated with <italic>SNCA</italic> duplications is wide, even within a single family, suggesting a role for as yet unidentified genetic or environmental modifiers. © 2013 <italic>Movement</italic> Disorder Society</p> </sec> </abstract>