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; Christine Klein

doi:10.1002/mdc3.14193

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, Christine Klein

Abstract

BACKGROUND: X-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.

OBJECTIVE: The 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.

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

RESULTS: The 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.

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

Original language	English
Journal	Movement Disorders Clinical Practice
Volume	11
Issue number	12
Pages (from-to)	1604-1608
Number of pages	5
DOIs	https://doi.org/10.1002/mdc3.14193
Publication status	Published - 12.2024

Funding

Funders	Funder number
International Parkinson and Movement Disorder Society
Deutsche Forschungsgemeinschaft	FOR 2488

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Research Areas and Centers

Research Area: Medical Genetics

DFG Research Classification Scheme

2.23-06 Molecular and Cellular Neurology and Neuropathology

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10.1002/mdc3.14193

Cite this

Doquenia, M. L. M., Dy Closas, A. M. F., Algodon, S. M., Suarez-Uy, R., Ng, A., Laabs, B.-H., Westenberger, A., Brüggemann, N., Rosales, R. L., Jamora, R. D., & Klein, C. (2024). Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao. Movement Disorders Clinical Practice, 11(12), 1604-1608. https://doi.org/10.1002/mdc3.14193

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title = "Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao",

abstract = "BACKGROUND: X-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.OBJECTIVE: The 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.METHODS: We investigated clinical and genetic features in 27 XDP patients from southern Mindanao. In all patients, we genotyped the 4 polymorphisms linked to AAO.RESULTS: The 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.CONCLUSION: The AAO model may provide reliable predictions by employing the effect of XDP genetic modifiers of AAO variability.",

author = "Doquenia, \{Maria Leila M\} and \{Dy Closas\}, \{Alfand Marl F\} and Algodon, \{Shela Marie\} and Rachel Suarez-Uy and Arlene Ng and Bj{\"o}rn-Hergen Laabs and Ana Westenberger and Norbert Br{\"u}ggemann and Rosales, \{Raymond L\} and Jamora, \{Roland Dominic\} and Christine Klein",

note = "Publisher Copyright: {\textcopyright} 2024 The Author(s). Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.",

year = "2024",

month = dec,

doi = "10.1002/mdc3.14193",

language = "English",

volume = "11",

pages = "1604--1608",

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T1 - Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao

AU - Doquenia, Maria Leila M

AU - Dy Closas, Alfand Marl F

AU - Algodon, Shela Marie

AU - Suarez-Uy, Rachel

AU - Ng, Arlene

AU - Laabs, Björn-Hergen

AU - Westenberger, Ana

AU - Brüggemann, Norbert

AU - Rosales, Raymond L

AU - Jamora, Roland Dominic

AU - Klein, Christine

PY - 2024/12

Y1 - 2024/12

N2 - BACKGROUND: X-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.OBJECTIVE: The 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.METHODS: We investigated clinical and genetic features in 27 XDP patients from southern Mindanao. In all patients, we genotyped the 4 polymorphisms linked to AAO.RESULTS: The 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.CONCLUSION: The AAO model may provide reliable predictions by employing the effect of XDP genetic modifiers of AAO variability.

AB - BACKGROUND: X-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.OBJECTIVE: The 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.METHODS: We investigated clinical and genetic features in 27 XDP patients from southern Mindanao. In all patients, we genotyped the 4 polymorphisms linked to AAO.RESULTS: The 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.CONCLUSION: The AAO model may provide reliable predictions by employing the effect of XDP genetic modifiers of AAO variability.

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

Abstract

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UN SDGs

Research Areas and Centers

DFG Research Classification Scheme

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