Springer Nature
Journal of Neurology
,  volume 272 ,  issue 3 ,  publication number 203

Motor and nonmotor features of p.A53T alpha-synuclein PD vs idiopathic PD: longitudinal data from the PPMI study

Athina-Maria Simitsi 1
, 
Evangelos Sfikas 1
, 
Christos Koros 1
, 
Nikolaos Papagiannakis 1
, 
Ion Beratis 1
, 
Dimitra Papadimitriou 2
, 
Roubina Antonellou 1
, 
Styliani Fragiadaki 1
, 
Dionysia Kontaxopoulou 1
, 
Marina Picillo 3
, 
Ioanna Pachi 1, 4
, 
Ioanna Alefanti 1
, 
Maria Stamelou 5, 6
, 
Paolo Barone 3
, 
Leonidas Stefanis 1, 7
1
 
2
 
1st Neurology Clinic, Henry Dunan Hospital, Athens, Greece | 
3
 
4
 
5
 
Parkinson’s disease and Movement Disorders Dept., HYGEIA Hospital, Athens, Greece | 
6
 
7
 
Publication type: Journal Article
Publication date: 2025-02-12
Springer Nature
scimago Q1
wos Q1
SJR: 1.687
CiteScore: 9.8
Impact factor: 4.6
ISSN: 03405354, 14321459
Abstract
Background and objectives

The phenotype of p.A53T-α-synuclein (SNCA) mutation carriers with Parkinson’s disease (A53T-PD) appears more severe compared to idiopathic PD (iPD), however, information is limited. Here we conducted a comprehensive longitudinal study to investigate the progression of motor and nonmotor features of Α53Τ-PD compared to iPD.

Methods

Detailed longitudinal 3-year data, concerning both motor and non-motor features, of 16 p.A53T-PD and 48 iPD, matched for age (51–53 years) and disease duration (approximately 4 years) at baseline, were downloaded from the Parkinson's Progression Markers Initiative (PPMI) database and compared between the two groups. Additionally, a cognitive composite score was generated by five cognitive tests, focused more on executive/visuospatial function.

Results

At baseline, global cognitive function, as assessed by the Montreal Cognitive Assessment (MOCA), was not significantly different between the two groups, in contrast to tests evaluating executive/visuospatial function, including the composite score, which were worse in A53T-PD. There was a significant decline over time in all neuropsychological tests in A53T-PD, while iPD remained stable. A similar pattern was revealed for motor status and function, as well as autonomic function, which were similar between the two groups at baseline, but deteriorated significantly only in A53T-PD over time.

Discussion

A53T-PD patients present an accelerated decline in both motor and non-motor parameters, with an impairment in executive-visuospatial function occurring early in the disease process. Such data may set the stage for targeted disease-modifying therapies in this particular subtype, while generated data may be widely applicable to iPD, which is largely a sporadic synucleinopathy.

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Simitsi A. et al. Motor and nonmotor features of p.A53T alpha-synuclein PD vs idiopathic PD: longitudinal data from the PPMI study // Journal of Neurology. 2025. Vol. 272. No. 3. 203
GOST all authors (up to 50) Copy
Simitsi A., Sfikas E., Koros C., Papagiannakis N., Beratis I., Papadimitriou D., Antonellou R., Fragiadaki S., Kontaxopoulou D., Picillo M., Pachi I., Alefanti I., Stamelou M., Barone P., Stefanis L. Motor and nonmotor features of p.A53T alpha-synuclein PD vs idiopathic PD: longitudinal data from the PPMI study // Journal of Neurology. 2025. Vol. 272. No. 3. 203
RIS |
Cite this
RIS Copy
TY - JOUR
DO - 10.1007/s00415-024-12836-w
UR - https://link.springer.com/10.1007/s00415-024-12836-w
TI - Motor and nonmotor features of p.A53T alpha-synuclein PD vs idiopathic PD: longitudinal data from the PPMI study
T2 - Journal of Neurology
AU - Simitsi, Athina-Maria
AU - Sfikas, Evangelos
AU - Koros, Christos
AU - Papagiannakis, Nikolaos
AU - Beratis, Ion
AU - Papadimitriou, Dimitra
AU - Antonellou, Roubina
AU - Fragiadaki, Styliani
AU - Kontaxopoulou, Dionysia
AU - Picillo, Marina
AU - Pachi, Ioanna
AU - Alefanti, Ioanna
AU - Stamelou, Maria
AU - Barone, Paolo
AU - Stefanis, Leonidas
PY - 2025
DA - 2025/02/12
PB - Springer Nature
IS - 3
VL - 272
SN - 0340-5354
SN - 1432-1459
ER -
BibTex
Cite this
BibTex (up to 50 authors) Copy
@article{2025_Simitsi,
author = {Athina-Maria Simitsi and Evangelos Sfikas and Christos Koros and Nikolaos Papagiannakis and Ion Beratis and Dimitra Papadimitriou and Roubina Antonellou and Styliani Fragiadaki and Dionysia Kontaxopoulou and Marina Picillo and Ioanna Pachi and Ioanna Alefanti and Maria Stamelou and Paolo Barone and Leonidas Stefanis},
title = {Motor and nonmotor features of p.A53T alpha-synuclein PD vs idiopathic PD: longitudinal data from the PPMI study},
journal = {Journal of Neurology},
year = {2025},
volume = {272},
publisher = {Springer Nature},
month = {feb},
url = {https://link.springer.com/10.1007/s00415-024-12836-w},
number = {3},
pages = {203},
doi = {10.1007/s00415-024-12836-w}
}