α-Synuclein multiplication analysis in Italian familial Parkinson disease

被引：28

作者：

Sironi, Francesca ^{[1
,2
]}

Trotta, Luca ^{[1
,2
]}

Antonini, Angelo ^{[1
]}

Zini, Michela ^{[1
]}

Ciccone, Roberto ^{[3
]}

Della Mina, Erika ^{[3
]}

Meucci, Nicoletta ^{[1
]}

Sacilotto, Giorgio ^{[1
]}

Primignani, Paola ^{[2
]}

Brambilla, Tiziana ^{[1
,2
]}

Coviello, Domenico A. ^{[2
]}

Pezzoli, Gianni ^{[1
]}

Goldwurm, Stefano ^{[1
]}

机构：

[1] Ist Clin Perfezionamento, Parkinson Inst, I-20126 Milan, Italy

[2] Osped Maggiore Policlin Mangiagalli & Regina Elen, Med Genet Lab, Fdn IRCCS, Milan, Italy

[3] Univ Pavia, Med Genet Lab, Dept Human & Hereditary Pathol, I-27100 Pavia, Italy

来源：

PARKINSONISM & RELATED DISORDERS | 2010年 / 16卷 / 03期

关键词：

SNCA; alpha-Synuclein multiplication; Familial Parkinson's disease; Gene dosage analysis; GENE DUPLICATION;

D O I：

10.1016/j.parkreldis.2009.09.008

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The a-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 (C) 2009 Elsevier Ltd. All rights reserved

引用

页码：228 / 231

页数：4

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