Evidence map›Paper›PMID 39934455›Full record

ArticleJournal of neurology2025

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

Athina Maria Simitsi, Evangelos Sfikas, Christos Koros, Nikolaos Papagiannakis, Ion Beratis, Dimitra Papadimitriou, Roubina Antonellou, Styliani Fragiadaki, Dionysia Kontaxopoulou, Marina Picillo and 5 more

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Article in Journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Athina Maria Simitsi1st Dept. of Neurology, Eginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece. simitsh@yahoo.gr.ORCID http://orcid.org/0000-0002-7130-6256
Evangelos Sfikas1st Dept. of Neurology, Eginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.
Christos Koros1st Dept. of Neurology, Eginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.
Nikolaos Papagiannakis1st Dept. of Neurology, Eginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.
Ion Beratis1st Dept. of Neurology, Eginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.
Dimitra Papadimitriou1st Neurology Clinic, Henry Dunan Hospital, Athens, Greece.
Roubina Antonellou1st Dept. of Neurology, Eginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.
Styliani Fragiadaki1st Dept. of Neurology, Eginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.
Dionysia Kontaxopoulou1st Dept. of Neurology, Eginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.
Marina PicilloCentre for Neurodegenerative Diseases (CEMAND), Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Salerno, Italy.
Ioanna Pachi1st Dept. of Neurology, Eginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.
Ioanna Alefanti1st Dept. of Neurology, Eginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.
Maria StamelouParkinson's Disease and Movement Disorders Dept., HYGEIA Hospital, Athens, Greece.
Paolo BaroneCentre for Neurodegenerative Diseases (CEMAND), Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Salerno, Italy.
Leonidas Stefanis1st Dept. of Neurology, Eginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesThe 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.

methodsDetailed 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.

resultsAt 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.

Indexed as

alpha-SynucleinParkinson DiseaseCognitive DysfunctionDisease ProgressionFemaleHumansLongitudinal StudiesMaleMiddle AgedMutationNeuropsychological Testsalpha-SynucleinSNCA protein, humanLongitudinalMotorNon-motorp.A53T-α-synuclein mutationParkinson’s disease

Identifiers

PMID39934455
PMCPMC11814018

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.