title: Motor and Nonmotor Features of Carriers of the p.A53T Alpha-Synuclein Mutation: A Longitudinal Study.
abstract: G209A SNCA mutation carriers represent an important group of genetic PD. We describe motor and nonmotor features of G209A SNCA mutation carriers.
  
  
  
  Longitudinal clinical assessments over 2 years were collected in 22 symptomatic and 8 asymptomatic G209A SNCA mutation carriers. Motor and nonmotor rating scales were administered. Correlations were performed between clinical variables and disease duration or age. Penetrance was calculated using Kaplan-Meier survival curves.
  
  
  
  Asymptomatic carriers did not manifest clear premotor symptoms, but symptomatic carriers often reported that olfactory dysfunction and rapid eye movement sleep behavior disorder preceded motor symptoms. Prominent motor decline and deterioration of autonomic and cognitive function occurred at follow-up; such nonmotor features correlated with disease duration, but not age. Disease penetrance was estimated at around 90%.
  
  
  
  This study may help to inform clinical trials and provide the basis for studies of disease modifiers in genetic synucleinopathy cohorts. © 2016 International Parkinson and Movement Disorder Society.
authors.affiliation: Henry Dunant Hospital Center, Athens, Greece.|Biomedical Research Foundation, Academy of Athens (BRFAA), Athens, Greece.
authors.forename: Dimitra
authors.initials: D
authors.lastname: Papadimitriou
authors.affiliation: Second Department of Neurology, "Attikon" University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: Roubina
authors.initials: R
authors.lastname: Antonelou
authors.affiliation: Laboratory of Biomathematics, School of Medicine University of Thessaly, Larissa, Greece.
authors.forename: Michael
authors.initials: M
authors.lastname: Miligkos
authors.affiliation: Biomedical Research Foundation, Academy of Athens (BRFAA), Athens, Greece.
authors.forename: Matina
authors.initials: M
authors.lastname: Maniati
authors.affiliation: Biomedical Research Foundation, Academy of Athens (BRFAA), Athens, Greece.|Second Department of Neurology, "Attikon" University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Papagiannakis
authors.affiliation: Third University Department of Neurology of the Aristotle University of Thessaloniki, Greece.
authors.forename: Sevasti
authors.initials: S
authors.lastname: Bostantjopoulou
authors.affiliation: Second Department of Neurology, "Attikon" University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: Athannassios
authors.initials: A
authors.lastname: Leonardos
authors.affiliation: Second Department of Neurology, "Attikon" University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: Christos
authors.initials: C
authors.lastname: Koros
authors.affiliation: Second Department of Neurology, "Attikon" University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: Athina
authors.initials: A
authors.lastname: Simitsi
authors.affiliation: Second Department of Neurology, "Attikon" University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: Sokratis G
authors.initials: SG
authors.lastname: Papageorgiou
authors.affiliation: First Department of Neurology, "Eginition" University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kapaki
authors.affiliation: Columbia University Medical Center, New York, New York, USA.
authors.forename: Roy N
authors.initials: RN
authors.lastname: Alcalay
authors.affiliation: Henry Dunant Hospital Center, Athens, Greece.
authors.forename: Alexandros
authors.initials: A
authors.lastname: Papadimitriou
authors.affiliation: Department of General Biology, Medical Faculty, University of Patras, Rio, Greece.
authors.forename: Aglaia
authors.initials: A
authors.lastname: Athanassiadou
authors.affiliation: Second Department of Neurology, "Attikon" University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.|Neurology Clinic, Philipps University, Marburg, Germany.|Movement Disorders Department, Hygeia Hospital, Athens, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Stamelou
authors.affiliation: Biomedical Research Foundation, Academy of Athens (BRFAA), Athens, Greece.|Second Department of Neurology, "Attikon" University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: Leonidas
authors.initials: L
authors.lastname: Stefanis
mesh_terms: D000328:Adult; D000368:Aged; D001342:Autonomic Nervous System Diseases / Q000209:etiology / Q000503:physiopathology*; D003704:Dementia / Q000209:etiology / Q000503:physiopathology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000857:Olfaction Disorders / Q000209:etiology / Q000503:physiopathology*; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D019683:Penetrance; D011618:Psychotic Disorders / Q000209:etiology / Q000503:physiopathology*; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: C497604:SNCA protein, human; D051844:alpha-Synuclein
keywords: A53T; Parkinson's disease; alpha-synuclein; asymptomatic; penetrance