Asymptomatic carriers of the p.A53T SNCA mutation: Data from the PPMI study.

Biomarkers Heterozygote Humans Mutation / genetics Prodromal Symptoms alpha-Synuclein / genetics
Alpha-synuclein Asymptomatic carriers Non-motor symptoms Parkinson's disease

Journal

Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583

Informations de publication

Date de publication:
05 2022
Historique:
received: 04 01 2022
revised: 27 03 2022
accepted: 03 04 2022
pubmed: 2 5 2022
medline: 15 6 2022
entrez: 1 5 2022
Statut: ppublish

Résumé

We assessed non motor characteristics of 12 asymptomatic p.A53T mutation carriers (A53T-AC) compared with 36 healthy controls (HC) enrolled in the Parkinson's Progression Markers Initiative (PPMI) study. Olfaction score was lower and anxiety was marginally more prevalent in A53T- AC. These findings suggest distinct prodromal features in this group of subjects.

Identifiants

DOI: 10.1016/j.parkreldis.2022.04.001 PMID: 35490542
pubmed: 35490542
pii: S1353-8020(22)00096-7
doi: 10.1016/j.parkreldis.2022.04.001
pii:
doi:

Substances chimiques

Biomarkers 0
SNCA protein, human 0
alpha-Synuclein 0

Types de publication

Letter Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

72-74

Informations de copyright

Copyright © 2022 Elsevier Ltd. All rights reserved.

Auteurs

Athina Maria Simitsi (AM)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Christos Koros (C)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Maria Stamelou (M)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece; Parkinson's Disease and Movement Disorders Department, HYGEIA Hospital, Athens, Greece; School of Medicine, European University of Cyprus, Nicosia, Cyprus; Neurology Clinic, Philipps University, Marburg, Germany.

Ion Beratis (I)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Efthymia Efthymiopoulou (E)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Dimitra Papadimitriou (D)

Neurology Clinic, Henry Dunan Hospital, Athens, Greece.

Anastasia Bougea (A)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Marina Picillo (M)

Centre for Neurodegenerative Diseases, University of Salerno, Italy.

Evangelia Stanitsa (E)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Nikolaos Papagiannakis (N)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Roubina Antonelou (R)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Ioanna Pachi (I)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Sokratis G Papageorgiou (SG)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Paolo Barone (P)

Centre for Neurodegenerative Diseases, University of Salerno, Italy.

Leonidas Stefanis (L)

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece; Biomedical Research Foundation, Academy of Athens (BRFAA), Athens, Greece. Electronic address: lstefanis@bioacademy.gr.

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Classifications MeSH

questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Asymptomatic carriers of the p.A53T SNCA...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Asymptomatic carriers of the p.A53T SNCA...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Asymptomatic carriers of the p.A53T SNCA...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Asymptomatic carriers of the p.A53T SNCA...
questionsmedicales.fr › Diagnostic › Symptômes prodromiques › Asymptomatic carriers of the p.A53T SNCA...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines associées à la maladie de Parkinson › alpha-Synucléine › Asymptomatic carriers of the p.A53T SNCA...