ReviewJournal of movement disorders2010
X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics.
Review in Journal of movement disorders, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 46 citations in OpenAlex.
- Emerging directions in tauopathy research.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Review
- Impact of X-linked dystonia-parkinsonism on caregiver strain, anxiety and depression.BMJ neurology open · 2026Article
- Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism.bioRxiv : the preprint server for biology · 2025Article
- Retrotransposon: an insight into neurological disorders from perspectives of neurodevelopment and aging.Translational neurodegeneration · 2025Review
- Anesthesia Management for High-Intensity Focused Ultrasound (HIFU) Thalamotomy for Movement Disorders: A Case Series from the National University Hospital of the Philippines.Acta medica Philippina · 2025Article
- Establishing and developing a magnetic resonance-guided focused ultrasound program in a resource-limited setting: the Philippine experience.Neurosurgical review · 2024Article
- Taf1 knockout is lethal in embryonic male mice and heterozygous females show weight and movement disorders.Disease models & mechanisms · 2024Article
- Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism.Clinical parkinsonism & related disorders · 2024Article
- Endemic parkinsonism: clusters, biology and clinical features.Nature reviews. Neurology · 2023Review
- Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP).Journal of neurology · 2023Article
- Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism.Journal of voice : official journal of the Voice Foundation · 2023Article
- The Effect of Glucocorticoids onJournal of the ASEAN Federation of Endocrine Societies · 2023Article
- Article
- A Community-based study on the prevalence and predisposing factors of Parkinson's disease in Barangay Mangilag Sur, Quezon Province, Philippines.Clinical parkinsonism & related disorders · 2022Article
- Tremor in Primary Monogenic Dystonia.Current neurology and neuroscience reports · 2021Review
- X-linked dystonia Parkinsonism: crossing a new threshold.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- 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.Clinical parkinsonism & related disorders · 2021Article
- Oromandibular Dystonia: A Clinical Examination of 2,020 Cases.Frontiers in neurology · 2021Article
- Increased insula-putamen connectivity in X-linked dystonia-parkinsonism.NeuroImage. Clinical · 2018Article
- Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag).Brain sciences · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP) is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of "status dystonicus," challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.