Neuroimaging and neuropathology studies of X-linked dystonia parkinsonism
Neurobiology of Disease, 2021 X-linked Dystonia Parkinsonism (XDP) is a recessive, genetically inherited neurodegenerative disorder endemic to Panay Island in the Philippines. Clinical symptoms include the initial appearance of dystonia, followed by parkinsonian traits after 10–15 ...
Christine J. Arasaratnam +3 more
doaj +6 more sources
Transcranial magnetic resonance-guided focused ultrasound pallidothalamic tractotomy for patients with X-linked dystonia-parkinsonism: a study protocol [PDF]
BMC Neurology, 2023 Transcranial magnetic resonance-guided focused ultrasound (MRgFUS) is a noninvasive method for controlling tremor and has recently been used in patients with X-linked dystonia-parkinsonism (XDP).
Roland Dominic G. Jamora +5 more
doaj +3 more sources
Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism [PDF]
Clinical Parkinsonism & Related DisordersIntroduction: Malnutrition is a leading cause of death for persons living with X-linked dystonia-parkinsonism (XDP), a degenerative disease endemic to the Philippines.
Tabitha H. Kao +8 more
doaj +4 more sources
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism [PDF]
Nature Communications, 2021 Age at onset of X-linked dystonia-parkinsonism is 50% explained by the length of a repeat in an SVA insert. The authors perform a GWAS for genetic modifiers and discover three more loci, accounting for another 13% of variability in age at onset with the ...
Björn-Hergen Laabs +30 more
doaj +2 more sources
Transcranial Magnetic Resonance-Guided Focused Ultrasound in X-Linked Dystonia-Parkinsonism [PDF]
Life, 2021 X-linked dystonia-parkinsonism (XDP) is a neurodegenerative condition found among males with maternal ancestry from Panay Island, Philippines. The treatment options are limited. We report on our experience of three XDP patients who underwent transcranial
Roland Dominic G. Jamora +2 more
doaj +2 more sources
Impact of X-linked dystonia-parkinsonism on caregiver strain, anxiety and depression [PDF]
BMJ Neurology OpenBackground X-linked dystonia-parkinsonism (XDP) is a progressive movement disorder that predominantly affects men from the Panay Islands in the Philippines.
Paulo Cataniag +2 more
doaj +2 more sources
A Cross-Cultural Validation of the Filipino and Hiligaynon Versions of the Parts IIIB (Non-Motor Features) and IV (Activities of Daily Living) of the X-Linked Dystonia-Parkinsonism– MDSP Rating Scale [PDF]
Clinical Parkinsonism & Related Disorders, 2021 Introduction: X-linked dystonia-parkinsonism (XDP) is a progressive movement disorder which also encompasses non-motor features and alterations in activities of daily living.
Richelle Ann S. Santiano +1 more
doaj +2 more sources
Striatal hyperechogenicity as an ultrasound imaging marker for prodromal X-linked dystonia-parkinsonism [PDF]
npj Parkinson's DiseaseX-linked dystonia-parkinsonism (XDP) is a neurodegenerative genetic disorder with striatal pathology. We investigated 138 participants (61 patients with XDP, 19 non-manifesting carriers (NMC), and 58 healthy controls (HC)) with transcranial sonography ...
Martje G. Pauly +11 more
doaj +2 more sources
The Clinical, Genetic, Psychosocial, and Care Landscape of X-Linked Dystonia-Parkinsonism in Filipino Men: A Scoping Review [PDF]
American Journal of Men's HealthBackground X-linked dystonia-parkinsonism (XDP) is a hereditary movement disorder predominantly affecting Filipino males from Panay Island ancestry.
Mary Dioise Ramos PhD, RN, CNE, FAAN +5 more
doaj +2 more sources
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat [PDF]
Acta Neuropathologica Communications, 2022 X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene.
Lindsey N. Campion +24 more
doaj +2 more sources