A distonia-parkinsonismo ligada ao cromossomo X (XDP) é uma doença neurológica progressiva que afeta os movimentos. Ela é caracterizada pelo surgimento, na idade adulta, de sintomas parecidos com os da Doença de Parkinson, frequentemente acompanhados por distonia focal, que são contrações musculares involuntárias em uma parte específica do corpo. Com o tempo, essas contrações podem se espalhar para outras partes do corpo. A forma como a doença se manifesta e evolui varia muito de uma pessoa para outra.
Introdução
O que você precisa saber de cara
A distonia-parkinsonismo ligada ao cromossomo X (XDP) é uma doença neurológica progressiva que afeta os movimentos. Ela é caracterizada pelo surgimento, na idade adulta, de sintomas parecidos com os da Doença de Parkinson, frequentemente acompanhados por distonia focal, que são contrações musculares involuntárias em uma parte específica do corpo. Com o tempo, essas contrações podem se espalhar para outras partes do corpo. A forma como a doença se manifesta e evolui varia muito de uma pessoa para outra.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 22 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Not applicable, X-linked recessive.
The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 an
Nucleus
Dystonia 3, torsion, X-linked
An X-linked dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT3 is characterized by severe progressive torsion dystonia followed by parkinsonism. It has a well-defined pathology of extensive neuronal loss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to resemble that in Huntington disease.
Variantes genéticas (ClinVar)
336 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 19 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
9 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Distonia-Parkinsonismo ligado ao X
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
3 ensaios clínicos encontrados.
Publicações mais relevantes
Alterations in energy production in a Drosophila model for the X-linked dystonia-parkinsonism-related Taf1 deficiency.
X-linked dystonia-parkinsonism (XDP), an adult-onset neurodegenerative disorder, is caused by an SVA insertion in the TAF1 gene, containing a hexanucleotide, the length of which is correlated to the severity of the disease. The SVA insertion moderately disrupts gene expression; however, the underlying disease mechanism remains enigmatic. Here, we characterized a fly model for Taf1 deficiency and performed a pilot RNA sequencing analysis. Subsequently, we validated these findings in Taf1-deficient flies and in XDP patient-derived fibroblasts. We identified an upregulation of genes involved in lipid-dependent energy production as a compensatory mechanism to maintain proper ATP levels. However, studies in XDP patient-derived fibroblasts with minor TAF1 reduction did not confirm these findings. β-oxidation is elevated in flies with severe TAF1 reduction but not detected in XDP-patient fibroblasts, suggesting that this compensatory mechanism may only manifest above a critical TAF1 dosage threshold, absent in patient basal conditions. This finding thus suggests that dosage-dependent metabolic responses occur following TAF1 loss.
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
X-linked dystonia parkinsonism (XDP) is a progressive adult-onset neurogenerative disorder caused by the insertion of a SINE-VNTR-Alu (SVA) retrotransposon in TAF1. One element of the SVA is a tandem polymorphic CCCTCT repeat tract whose length inversely correlates with the age of disease onset. Previous observations that the repeat exhibits length-dependent somatic expansion and that XDP onset is modified by variation in DNA repair gene MSH3 indicated that somatic repeat expansion is an important disease driver. Here, we sought to uncover genetic modifiers of CCCTCT instability in XDP individuals and to provide a mechanistic link between somatic instability and disease. We determined quantitative metrics of both repeat expansion and repeat contraction in blood. Using genetic association analyses of exome sequencing data and directed sequencing of a variant MSH3 repeat, we found that MSH3 modifies repeat expansion and contraction in blood as well as age at onset. MSH3 alleles associated with earlier disease onset were associated with more expansion and less contraction. Conversely, alleles associated with later disease onset were associated with less expansion and more contraction. Notably, MSH3 repeat alleles were also similarly associated with expansion and contraction in brain tissues. Our findings provide key evidence that the role of MSH3 in CCCTCT repeat dynamics underlies its impact on clinical disease and indicate that therapeutic strategies to lower or inhibit MSH3 are predicted to both slow CCCTCT expansion and promote CCCTCT contraction, impacting the disease course prior to clinical onset.
Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.
X-linked Dystonia-Parkinsonism (XDP) is a lethal adult-onset neurodegenerative disorder that exhibits features of dystonia and parkinsonism and is exclusively associated with a causal founder haplotype that is indigenous to the Philippines and affects Filipino males. Using patient-specific fibroblasts, neural stem cells (NSC), and other neuronal models, we discovered that cryptic alternative splicing caused by a novel SINE-VNTR-Alu (SVA) mobile element insertion into intron 32 of TAF1 is a mechanistic hallmark of XDP. We leveraged postmortem brain samples from an XDP-specific brain bank to demonstrate that the molecular hallmarks of XDP observed in neural stem cells (NSCs) mirror abnormalities observed in brain tissues from affected patients. Based on these findings that patient-specific NSCs reproduce mechanistic signatures found in the brain, we sought to develop a bespoke precision therapeutic for XDP and evaluate its relative efficacy in ameliorating transcriptomic signatures in neuronal models. We first used CRISPR-based excision of the SVA and demonstrated ablation of all aberrant splicing and dysregulation of TAF1 expression in NSCs across 30 independent clones. CRISPR-based correction of the XDP haplotype also restored the expression of 424 of 1,490 (30%) differentially expressed genes (DEGs) that were altered in XDP patient lines and greatly exceeded what would be expected by chance (p-value = 9.89e-87). While in vivo delivery of a gold standard CRISPR therapy is currently not feasible for XDP, we evaluated a tractable approach for Filipino patients by exploring the potential to modulate alternative splicing in XDP patients using antisense oligonucleotides (ASOs). To accomplish this, we developed a large-scale and well controlled functional genomics platform that screened eighty ASOs targeting intron 32 of XDP patients, followed by prioritization of lead ASOs based on attenuation of the alternative splicing signature. In transcriptome analyses across 1,550 libraries, we found that 8 of the 12 lead ASOs ameliorated the targeted XDP aberrant splicing. Moreover, we found that the two lead ASOs exhibited 38% and 43% rescue of XDP-specific DEGs that were also rescued by CRISPR excision of the SVA (enrichment p-values = 2.06e-13 and 2.27e-05, respectively). These rescues represented restoration of key molecular functions previously implicated in XDP, such as synaptic function, DNA-binding transcription factor activity, and gliogenesis. This study highlights a path to a potential targeted therapeutic for XDP and the capacity to exploit functional genomic signatures in patient-derived neural models to develop a scalable precision therapeutic platform for rare genetic disorders.
A hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegeneration.
Retrotransposon activation is emerging as a significant factor in neurodegenerative disease pathogenesis. SINE-VNTR-Alu (SVAs) are hominid-specific retrotransposons that create genetic variation through insertion polymorphisms and variable short tandem repeat (STR) lengths. We investigate how the SVA (CCCTCT)n STR contributes to the striatal neurodegenerative disorder X-linked dystonia parkinsonism (XDP), where the repeat expansion length within the pathogenic SVA is inversely correlated with age at disease onset. Phenotypic and transcriptomic analysis of XDP and isogenic SVA-deleted striatal organoids reveal that the SVA insertion drives hallmarks of neurodegeneration, including transcriptional dysregulation, decreased neuronal activity, and apoptosis, which are ameliorated by SVA deletion. We identify an (AGAGGG)n hexamer-containing RNA in the XDP-causing SVA that increases expression during organoid maturation and drives R-loop formation in organoids and brain tissue. Knockdown of the hexamer-containing RNA by antisense oligonucleotides rescues apoptosis in XDP organoids. We demonstrate that a retrotransposon-derived tandem repeat RNA may cause neurodegeneration.
Engineering of CD63 Enables Selective Extracellular Vesicle Cargo Loading and Enhanced Payload Delivery.
Extracellular vesicles (EVs) are mediators of intercellular communication through the transfer of nucleic acids, lipids and proteins between cells. This property makes bioengineered EVs promising therapeutic vectors. However, it remains challenging to isolate EVs with a therapeutic payload due to the heterogeneous nature of cargo loading into EVs. In this study, enrichment of EVs with a desired cargo was possible through engineering of the hallmark CD63 transmembrane protein. E-NoMi refers to engineered CD63 with mCherry on the inside of the EV membrane and a tag (3xFLAG) exposed on the outside of the EV membrane. To facilitate EV loading during biogenesis, cargo proteins, such as EGFP, Cre recombinase and the CRISPR-Cas nuclease (SaCas9), were fused to a nanobody (Nb) protein with a high affinity for mCherry. FLAG-tag-based immunocapture from cell conditioned media allowed selection of cargo-loaded E-NoMi-EVs, and tobacco etch virus (TEV) protease cleavage sites were used to remove the 3xFLAG-tag from the surface of E-NoMi-EVs after capture. For functional payload delivery to recipient cells, the vesicular stomatitis virus G (VSV-G) fusogenic protein was incorporated into E-NoMi-EVs to form fusogenic EV-based vectors (EVVs) and proved to be 10-fold more effective at cargo delivery than EVs generated by size-exclusion chromatography. Functional delivery of cargo with E-NoMi-EVVs was validated in two mouse brain models in vivo.
Publicações recentes
Alterations in energy production in a Drosophila model for the X-linked dystonia-parkinsonism-related Taf1 deficiency.
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.
Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism.
Myelin pathology is a key feature of X-linked Dystonia Parkinsonism.
📚 EuropePMC137 artigos no totalmostrando 141
Alterations in energy production in a Drosophila model for the X-linked dystonia-parkinsonism-related Taf1 deficiency.
Frontiers in aging neuroscienceMSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
American journal of human geneticsTherapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.
medRxiv : the preprint server for health sciencesGenome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism.
bioRxiv : the preprint server for biologyMyelin pathology is a key feature of X-linked Dystonia Parkinsonism.
bioRxiv : the preprint server for biologyAnesthesia Management for High-Intensity Focused Ultrasound (HIFU) Thalamotomy for Movement Disorders: A Case Series from the National University Hospital of the Philippines.
Acta medica PhilippinaA hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegeneration.
Cell reportsEngineering of CD63 Enables Selective Extracellular Vesicle Cargo Loading and Enhanced Payload Delivery.
Journal of extracellular vesiclesGlobally Reduced Brain Volume in Rett Syndrome.
Pediatric neurologyCerulenin partially corrects the disrupted developmental transcriptomic signature in Huntington's disease striatal medium spiny neurons.
Stem cells (Dayton, Ohio)The tongue muscles: Clinical applications in lingual dystonia.
Toxicon : official journal of the International Society on ToxinologyX-Linked Dystonia-Parkinsonism in a Manifesting Female: First Case Report of Deep Brain Stimulation.
Movement disorders clinical practiceGLP-1 agonists to slow down Parkinson's progression? The quest continues.
Med (New York, N.Y.)Retrotransposon: an insight into neurological disorders from perspectives of neurodevelopment and aging.
Translational neurodegenerationNon-invasive detection of allele-specific CRISPR-SaCas9-KKH disruption of TOR1A DYT1 allele in a xenograft mouse model.
Molecular therapy. Nucleic acidsClinical Outcomes with Prospective Brain Sensing Data Following Bilateral Globus Pallidus Deep Brain Stimulation in X-Linked Dystonia Parkinsonism.
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Journal of computational and graphical statistics : a joint publication of American Statistical Association, Institute of Mathematical Statistics, Interface Foundation of North AmericaGenomic characterization of Huntington's disease genetic modifiers informs drug target tractability.
Brain communicationsPromoting Physical Activity in People With Parkinson's Disease Through a Smartphone App: A Pilot Study.
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Clinical parkinsonism & related disordersEndometrioma patients are under-treated with endocrine endometriosis therapy.
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CNS neuroscience & therapeuticsClinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao.
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Royal Society open scienceG-quadruplexes in an SVA retrotransposon cause aberrant TAF1 gene expression in X-linked dystonia parkinsonism.
Nucleic acids researchZNF91 is an endogenous repressor of the molecular phenotype associated with X-linked dystonia-parkinsonism (XDP).
Proceedings of the National Academy of Sciences of the United States of AmericaEstablishing and developing a magnetic resonance-guided focused ultrasound program in a resource-limited setting: the Philippine experience.
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Scientific reportsIslands and Neurology: An Exploration into a Unique Association.
The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatryMini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease.
Nature structural & molecular biologyTaf1 knockout is lethal in embryonic male mice and heterozygous females show weight and movement disorders.
Disease models & mechanismsSAK3 confers neuroprotection in the neurodegeneration model of X-linked Dystonia-Parkinsonism.
Research squareStability of Mosaic Divergent Repeat Interruptions in X-Linked Dystonia-Parkinsonism.
Movement disorders : official journal of the Movement Disorder SocietyNeuroenergetic Changes in Patients with X-Linked Dystonia-Parkinsonism and Female Carriers.
Movement disorders clinical practiceOral diadochokinetic markers of X-linked dystonia-parkinsonism.
Parkinsonism & related disordersA scoping review on the diagnosis and treatment of X-linked dystonia-parkinsonism.
Parkinsonism & related disordersProteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing.
Neurobiology of diseaseApplicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson's disease and monogenic dystonia: a multidisciplinary team perspective.
Frontiers in neuroscienceLongitudinal predictors of health-related quality of life in isolated dystonia.
Journal of neurologyThe STEPWISE study: study protocol for a smartphone-based exercise solution for people with Parkinson's Disease (randomized controlled trial).
BMC neurologyiPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons.
Cell reportsTranscranial magnetic resonance-guided focused ultrasound pallidothalamic tractotomy for patients with X-linked dystonia-parkinsonism: a study protocol.
BMC neurologyA Network Imaging Biomarker of X-Linked Dystonia-Parkinsonism.
Annals of neurologyNine Hereditary Movement Disorders First Described in Asia: Their History and Evolution.
Journal of movement disordersThe vital role of natural history studies in rare disease: insights from X-linked dystonia parkinsonism.
Brain communicationsEstablishing a natural history of X-linked dystonia parkinsonism.
Brain communicationsThe Effect of Glucocorticoids on TAF1 Gene Transcription in X-linked Dystonia Parkinsonism.
Journal of the ASEAN Federation of Endocrine SocietiesMechanisms underlying phenotypic variation in neurogenetic disorders.
Nature reviews. NeurologyTracking human neurologic disease status in mouse brain/plasma using reporter-tagged, EV-associated biomarkers.
Molecular therapy : the journal of the American Society of Gene TherapyOculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP).
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Movement disorders : official journal of the Movement Disorder SocietyFactors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism.
Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.VVariation in TAF1 expression in female carrier induced pluripotent stem cells and human brain ontogeny has implications for adult neostriatum vulnerability in X-linked Dystonia Parkinsonism.
eNeuroProdromal X-Linked Dystonia-Parkinsonism is Characterized by a Subclinical Motor Phenotype.
Movement disorders : official journal of the Movement Disorder SocietyMosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
Brain : a journal of neurologyAssociation Study of TAF1 Variants in Parkinson's Disease.
Frontiers in neuroscienceTissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
Acta neuropathologica communicationsMonogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.
GenesBiopsychosocial Aspect of Patients With X-Linked Dystonia-Parkinsonism: Its Implications on Quality of Life.
CureusTranscriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon.
International journal of molecular sciencesElucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
GenesUsing genetically modified extracellular vesicles as a non-invasive strategy to evaluate brain-specific cargo.
BiomaterialsX-linked dystonia-parkinsonism: over and above a repeat disorder.
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American journal of human geneticsX-Linked Dystonia-Parkinsonism ("Lubag") May Present with Peripheral Synucleinopathy.
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Science translational medicineStriatal Cholinergic Dysregulation after Neonatal Decrease in X-Linked Dystonia Parkinsonism-Related TAF1 Isoforms.
Movement disorders : official journal of the Movement Disorder SocietySpeech and swallowing deficits in X-Linked Dystonia-Parkinsonism.
Parkinsonism & related disordersBrain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing.
Neurology. GeneticsIdentifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Nature communicationsImpact of deep brain stimulation on quality of life and motor symptoms in Parkinson's disease and X-linked dystonia parkinsonism: The Philippine experience.
Parkinsonism & related disordersX-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.
Movement disorders : official journal of the Movement Disorder SocietyTranscranial Magnetic Resonance-Guided Focused Ultrasound in X-Linked Dystonia-Parkinsonism.
Life (Basel, Switzerland)X-linked dystonia Parkinsonism: crossing a new threshold.
Journal of neural transmission (Vienna, Austria : 1996)Neurocognitive profile of patients with X-linked dystonia-parkinsonism.
Journal of neural transmission (Vienna, Austria : 1996)Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.
Frontiers in neurologyBilateral vestibulopathy in anti-IgLON5 disease.
Journal of neurologyTherapies for Genetic Forms of Parkinson's Disease: Systematic Literature Review.
Journal of neuromuscular diseasesPromise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism.
Journal of neural transmission (Vienna, Austria : 1996)Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism.
Journal of voice : official journal of the Voice FoundationSVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene.
PloS oneIsolated dystonia: clinical and genetic updates.
Journal of neural transmission (Vienna, Austria : 1996)Retroelement-derived RNA and its role in the brain.
Seminars in cell & developmental biologyNeuroimaging and neuropathology studies of X-linked dystonia parkinsonism.
Neurobiology of diseaseCombined dystonias: clinical and genetic updates.
Journal of neural transmission (Vienna, Austria : 1996)Corrigendum: Translation, Cultural Adaptation, and Validation of the Hiligaynon Montreal Cognitive Assessment Tool (MoCA-Hil) Among Patients With X-Linked Dystonia Parkinsonism (XDP).
Frontiers in neurologyTAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.
Movement disorders : official journal of the Movement Disorder SocietyLinking Huntington's Disease and X-linked Dystonia Parkinsonism on the Molecular Level.
Movement disorders : official journal of the Movement Disorder SocietyExpanding Data Collection for the MDSGene Database: X-linked Dystonia-Parkinsonism as Use Case Example.
Movement disorders : official journal of the Movement Disorder SocietyDNA Methylation as a Potential Molecular Mechanism in X-linked Dystonia-Parkinsonism.
Movement disorders : official journal of the Movement Disorder SocietyNeuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex.
Neurobiology of diseasePathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism.
Brain : a journal of neurologyPhasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia Parkinsonism.
Movement disorders clinical practiceTranslation, Cultural Adaptation, and Validation of the Hiligaynon Montreal Cognitive Assessment Tool (MoCA-Hil) Among Patients With X-Linked Dystonia Parkinsonism (XDP).
Frontiers in neurologyRisk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.
Journal of neurology, neurosurgery, and psychiatryQuality of life outcomes after deep brain stimulation in dystonia: A systematic review.
Parkinsonism & related disordersNeuronal-specific microexon splicing of TAF1 mRNA is directly regulated by SRRM4/nSR100.
RNA biologyImaging gradual neurodegeneration in a basal ganglia model disease.
Annals of neurologyCost-Analysis of the Different Treatment Modalities in X-Linked Dystonia-Parkinsonism.
Frontiers in neurologyX-Linked Dystonia-Parkinsonism: recent advances.
Current opinion in neurologyA hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
Annals of neurologyVoice and swallowing dysfunction in X-linked dystonia parkinsonism.
The LaryngoscopeCorrigendum: Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics.
Frontiers in neurologyAssociation of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism.
JAMA neurologyLong-Term Outcomes of Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia and Parkinsonism.
Stereotactic and functional neurosurgeryTransient Generalized Chorea in Influenza A Encephalopathy.
Tremor and other hyperkinetic movements (New York, N.Y.)Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics.
Frontiers in neurologyEye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration.
Parkinsonism & related disordersLong-term outcomes of pallidal deep brain stimulation in X-linked dystonia parkinsonism (XDP): Up to 84 months follow-up and review of literature.
Parkinsonism & related disordersBasal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism.
Brain : a journal of neurologyAn integrated OMICS approach unravels the elusive genetic cause of X-linked dystonia-parkinsonism.
Movement disorders : official journal of the Movement Disorder SocietyGenome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.
Movement disorders : official journal of the Movement Disorder SocietyAltered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients.
Experimental neurologyIncreased insula-putamen connectivity in X-linked dystonia-parkinsonism.
NeuroImage. ClinicalDissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
CellSolving Mendelian Mysteries: The Non-coding Genome May Hold the Key.
CellStem Cells Engineered During Different Stages of Reprogramming Reveal Varying Therapeutic Efficacies.
Stem cells (Dayton, Ohio)Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.
Proceedings of the National Academy of Sciences of the United States of AmericaValidation of the XDP-MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism.
NPJ Parkinson's diseaseClinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag).
Brain sciencesThe Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information-Evidence from X-Linked Dystonia Parkinsonism.
Cerebral cortex (New York, N.Y. : 1991)Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding.
Brain structure & functionStriatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression.
European journal of neurologySonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism.
Parkinsonism & related disordersStriosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism.
Movement disorders : official journal of the Movement Disorder SocietyX-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B.
Neurobiology of diseaseNeuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism.
Parkinsonism & related disordersEvidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.
Cellular and molecular life sciences : CMLSDecreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.
Disease models & mechanismsGenome Editing in Human Pluripotent Stem Cells: Approaches, Pitfalls, and Solutions.
Cell stem cellBiochemical mechanisms of pallidal deep brain stimulation in X-linked dystonia parkinsonism.
Parkinsonism & related disordersNeurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease.
Movement disorders : official journal of the Movement Disorder SocietyNew insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
European journal of human genetics : EJHGAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Alterations in energy production in a Drosophila model for the X-linked dystonia-parkinsonism-related Taf1 deficiency.
- MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
- Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.
- A hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegeneration.
- Engineering of CD63 Enables Selective Extracellular Vesicle Cargo Loading and Enhanced Payload Delivery.
- Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism.
- Myelin pathology is a key feature of X-linked Dystonia Parkinsonism.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:53351(Orphanet)
- OMIM OMIM:314250(OMIM)
- MONDO:0010747(MONDO)
- Distonia e Espasticidade(PCDT · Ministério da Saúde)
- GARD:10533(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3042159(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
