title: alpha-Synuclein multiplication analysis in Italian familial Parkinson disease.
abstract: The alpha-synuclein gene (SNCA) multiplication causes autosomal dominant Parkinson Disease (PD): triplication is associated with early-onset rapidly progressing parkinsonism with a strong likelihood of developing dementia, while duplication is associated with a less severe phenotype similar to idiopathic PD. We tested for SNCA multiplication 144 unrelated PD patients with a dominant family history. We identified one patient with SNCA duplication (0.7%). The SNCA-duplicated patient was a woman of 45 years of age with PD onset at 41 years of age. She experienced a rapidly progressive disease with early motor complications (on/off fluctuations and dyskinesias). Medical records confirmed that the proband's mother developed PD at 47 years of age and died at 63 with dementia. She experienced rapid progression in both motor and cognitive symptoms: development of dementia at 54 years of age, 7 years after onset. Although SNCA duplication is an unusual cause of familial PD testing for it is worthwhile. The clinical presentation of duplicated cases may be more aggressive than usual.
authors.affiliation: Parkinson Institute, Istituti Clinici di Perfezionamento, via Bignami 1, 20126 Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Sironi
authors.forename: Luca
authors.initials: L
authors.lastname: Trotta
authors.forename: Angelo
authors.initials: A
authors.lastname: Antonini
authors.forename: Michela
authors.initials: M
authors.lastname: Zini
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
authors.forename: Erika
authors.initials: E
authors.lastname: Della Mina
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Meucci
authors.forename: Giorgio
authors.initials: G
authors.lastname: Sacilotto
authors.forename: Paola
authors.initials: P
authors.lastname: Primignani
authors.forename: Tiziana
authors.initials: T
authors.lastname: Brambilla
authors.forename: Domenico A
authors.initials: DA
authors.lastname: Coviello
authors.forename: Gianni
authors.initials: G
authors.lastname: Pezzoli
authors.forename: Stefano
authors.initials: S
authors.lastname: Goldwurm
mesh_terms: D000328:Adult; D000368:Aged; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000379:methods; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000235:genetics*; D055815:Young Adult; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: D051844:alpha-Synuclein