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

2 Zitate (Scopus)

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.

Originalsprache	Englisch
Zeitschrift	Movement Disorders Clinical Practice
Jahrgang	11
Ausgabenummer	12
Seiten (von - bis)	1604-1608
Seitenumfang	5
DOIs	https://doi.org/10.1002/mdc3.14193
Publikationsstatus	Veröffentlicht - 12.2024

Fördermittel

This study was supported by the Movement Disorders Society Philippines (MDSP) and the German Research Foundation (DFG, FOR 2488 to A.W., N.B., and C.K.). M.L.M.D. has been supported by a fellowship from the Global Parkinson's Genetics Program (GP2). The authors declare that there are no funding sources or conflicts of interest relevant to this work. Funding Sources and Conflicts of Interest:

Träger	Trägernummer
International Parkinson and Movement Disorder Society
Deutsche Forschungsgemeinschaft	FOR 2488

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen

Strategische Forschungsbereiche und Zentren

Querschnittsbereich: Medizinische Genetik

DFG-Fachsystematik

2.23-06 Molekulare und zelluläre Neurologie und Neuropathologie

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10.1002/mdc3.14193

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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

@article{1c4667f835c94750ab801c3c2be2c2aa,

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",

journal = "Movement Disorders Clinical Practice",

issn = "2330-1619",

publisher = "John Wiley and Sons Ltd",

number = "12",

}

Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao. / Doquenia, Maria Leila M; Dy Closas, Alfand Marl F; Algodon, Shela Marie et al.
in: Movement Disorders Clinical Practice, Jahrgang 11, Nr. 12, 12.2024, S. 1604-1608.

Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

TY - JOUR

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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DO - 10.1002/mdc3.14193

M3 - Journal articles

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SN - 2330-1619

VL - 11

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JO - Movement Disorders Clinical Practice

JF - Movement Disorders Clinical Practice

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

Abstract

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Strategische Forschungsbereiche und Zentren

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