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

Autor: Doquenia MLM; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neuroscience and Brain Health, Metropolitan Medical Center, Manila, Philippines., Dy Closas AMF; St. Louis Hospital, Tacurong City, Philippines.; Davao Doctors Hospital, Davao City, Philippines.; Metro Davao Medical and Research Center, Davao City, Philippines., Algodon SM; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Suarez-Uy R; Dr. Arturo P. Pingoy Medical Center, Koronadal City, Philippines., Ng A; Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Philippines., Laabs BH; Institute of Medical Biometry and Statistics, University of Lübeck, University Medical Center Schleswig-Holstein, Lübeck, Germany., Westenberger A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Brüggemann N; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany., Rosales RL; Department of Neuroscience and Brain Health, Metropolitan Medical Center, Manila, Philippines.; Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Philippines.; Department of Neurology and Psychiatry, Neuroscience Institute, University of Santo Tomas Hospital, Manila, Philippines., Jamora RD; Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Philippines.; Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines, Manila, Philippines., Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.
Jazyk: angličtina
Zdroj: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Dec; Vol. 11 (12), pp. 1604-1608. Date of Electronic Publication: 2024 Oct 14.
DOI: 10.1002/mdc3.14193
Abstrakt: 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.
(© 2024 The Author(s). Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
Databáze: MEDLINE
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