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
Increased insula-putamen connectivity in X-linked dystonia-parkinsonism [PDF]
NeuroImage: Clinical, 2018 Preliminary evidence from postmortem studies of X-linked dystonia-parkinsonism (XDP) suggests tissue loss may occur first and/or most severely in the striatal striosome compartment, followed later by cell loss in the matrix compartment.
Anne J. Blood +9 more
doaj +7 more sources
Cost-Analysis of the Different Treatment Modalities in X-Linked Dystonia–Parkinsonism [PDF]
Frontiers in Neurology, 2019 Background: X-linked dystonia-parkinsonism (XDP) is a debilitating disease endemic in the Philippines. Several oral medications as well as botulinum toxin A (BoNT-A) injection and deep brain stimulation (DBS) surgery appear to be the cornerstone of ...
Ranhel C. De Roxas +2 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
Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag) [PDF]
Brain Sciences, 2017 X-linked dystonia–parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or “Lubag” disease, was first described as an endemic disease in the Philippine island of Panay.
Toshitaka Kawarai +3 more
doaj +5 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 +3 more sources
SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene. [PDF]
PLoS ONE, 2020 X-linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease linked to an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1.
Tiziana Petrozziello +22 more
doaj +3 more sources
Corrigendum: Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics [PDF]
Frontiers in Neurology, 2018 Objectives: X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder endemic to the island of Panay in the Philippines. We undertook a population-based prevalence study to enumerate all cases of XDP in Panay.
Jose Danilo B. Diestro +3 more
doaj +4 more sources
The vital role of natural history studies in rare disease: insights from X-linked dystonia parkinsonism. [PDF]
Brain Commun, 2023 This scientific commentary refers to ‘Establishing a natural history of X-linked dystonia parkinsonism’, by Acuna et al.
Haq I, Brashear A.
europepmc +2 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