Evidence map›Paper›PMID 39400991›Full record

ArticleMovement disorders clinical practice2024

Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao.

Maria Leila M Doquenia, Alfand Marl F Dy Closas, Shela Marie Algodon, Rachel Suarez-Uy, Arlene Ng, Björn-Hergen Laabs, Ana Westenberger, Norbert Brüggemann, Raymond L Rosales, Roland Dominic Jamora and 1 more

Abstract read
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Article in Movement disorders clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 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

11 authors.

Maria Leila M DoqueniaInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID https://orcid.org/0000-0003-3708-6680
Alfand Marl F Dy ClosasSt. Louis Hospital, Tacurong City, Philippines.ORCID https://orcid.org/0000-0003-1209-9573
Shela Marie AlgodonInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Rachel Suarez-UyDr. Arturo P. Pingoy Medical Center, Koronadal City, Philippines.
Arlene NgInstitute for Neurosciences, St. Luke's Medical Center, Quezon City, Philippines.
Björn-Hergen LaabsInstitute of Medical Biometry and Statistics, University of Lübeck, University Medical Center Schleswig-Holstein, Lübeck, Germany.ORCID https://orcid.org/0000-0002-9265-5738
Ana WestenbergerInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID https://orcid.org/0000-0001-8062-6959
Norbert BrüggemannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Raymond L RosalesDepartment of Neuroscience and Brain Health, Metropolitan Medical Center, Manila, Philippines.
Roland Dominic JamoraInstitute for Neurosciences, St. Luke's Medical Center, Quezon City, Philippines.
Christine KleinInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Funding

Deutsche Forschungsgemeinschaft FOR 2488Movement Disorders Society of the Philippines
6 · The paper itself

Abstract

backgroundX-linked dystonia-parkinsonism (XDP), a neurodegenerative movement disorder endemic to the Philippines, is primarily investigated in patients from Panay Island and the Greater Manila area. However, individuals residing in geographically distant regions may exhibit different clinical or genetic characteristics compared to those documented in earlier reports.

objectiveThe aim was to investigate the relationship of XDP clinical features in a Mindanao cohort with modifiers of age at onset (AAO) variability and utilization of a previously reported AAO model.

methodsWe investigated clinical and genetic features in 27 XDP patients from southern Mindanao. In all patients, we genotyped the 4 polymorphisms linked to AAO.

resultsThe XDP-relevant hexanucleotide repeat number significantly correlated with AAO in the 27 patients and explained about 68% of AAO variability. There is no statistical difference between the predicted and actual AAO.

conclusionThe AAO model may provide reliable predictions by employing the effect of XDP genetic modifiers of AAO variability.

Indexed as

Age of OnsetDystonic DisordersGenetic Diseases, X-LinkedAdultAgedCohort StudiesFemaleGenotypeHumansMaleMiddle AgedPhilippinesPolymorphism, GeneticYoung Adultage at onsetgenetic modifiershexanucleotide repeat numbersX‐linked dystonia‐parkinsonism (XDP)

Identifiers

PMID39400991
PMCPMC11647983

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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.