A patient having two schizophrenic brothers developed simple writer's cramp at the age of 20 years. Three years later she developed irregular and unusual movements which was diagnosed and treated as hysteria until she had contractures in the right hand. EMG studies revealed abnormalities suggestive of torsion dystonia. The association of schizophrenia in the first degree relatives and the differential responses to haloperidol in this case of torsion dystonia has been discussed.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012892 | PMC |
Publication Analysis
Top Keywords
Similar Publications
Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA.
Dis Model Mech
November 2024
Department of Biological Sciences, University of South Carolina, Columbia, SC 29208, USA.
Variants in the PRKRA gene, which encodes PACT, cause the early-onset primary dystonia DYT-PRKRA, a movement disorder associated with disruption of coordinated muscle movements. PACT and its murine homolog RAX activate protein kinase R (PKR; also known as EIF2AK2) by a direct interaction in response to cellular stressors to mediate phosphorylation of the α subunit of eukaryotic translation initiation factor 2 (eIF2α). Mice homozygous for a naturally arisen, recessively inherited frameshift mutation, Prkralear-5J, exhibit progressive dystonia.
View Article and Find Full Text PDFTargeting Myeloperoxidase to Reduce Neuroinflammation in X-Linked Dystonia Parkinsonism.
CNS Neurosci Ther
November 2024
Sean M. Healey & AMG Center for ALS at Mass General, Massachusetts General Hospital, Boston, Massachusetts, USA.
Aims: Although the genetic locus of X-linked dystonia parkinsonism (XDP), a neurodegenerative disease endemic in the Philippines, is well-characterized, the exact mechanisms leading to neuronal loss are not yet fully understood. Recently, we demonstrated an increase in myeloperoxidase (MPO) levels in XDP postmortem prefrontal cortex (PFC), suggesting a role for inflammation in XDP pathogenesis. Therefore, we hypothesized that inhibiting MPO could provide a therapeutic strategy for XDP.
View Article and Find Full Text PDFClinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao.
Mov Disord Clin Pract
December 2024
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Article Synopsis
- X-linked dystonia-parkinsonism (XDP) is a movement disorder prevalent in the Philippines, predominantly studied in specific regions like Panay Island, but other areas like Mindanao may show different traits.* -
- This study focused on 27 XDP patients in southern Mindanao to explore clinical features and how age at onset (AAO) varies based on genetic factors.* -
- The results indicated a strong correlation between a specific genetic marker and AAO, suggesting the model used can accurately predict the onset age using these genetic modifiers.*
G-quadruplexes in an SVA retrotransposon cause aberrant TAF1 gene expression in X-linked dystonia parkinsonism.
Nucleic Acids Res
October 2024
Department of Molecular Medicine, University of Padua, via A. Gabelli 63, 35121 Padua, Italy.
G-quadruplexes (G4s) are non-canonical nucleic acid structures that form in guanine (G)-rich genomic regions. X-linked dystonia parkinsonism (XDP) is an inherited neurodegenerative disease in which a SINE-VNTR-Alu (SVA) retrotransposon, characterised by amplification of a G-rich repeat, is inserted into the coding sequence of TAF1, a key partner of RNA polymerase II. XDP SVA alters TAF1 expression, but the cause of this outcome in XDP remains unknown.
View Article and Find Full Text PDFZNF91 is an endogenous repressor of the molecular phenotype associated with X-linked dystonia-parkinsonism (XDP).
Proc Natl Acad Sci U S A
August 2024
Faculty of Science, Evolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, Amsterdam 1098 XH, The Netherlands.
X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative disorder resulting from an inherited intronic SINE-Alu-VNTR (SVA) retrotransposon in the gene that causes dysregulation of transcription. The specific mechanism underlying this dysregulation remains unclear, but it is hypothesized to involve the formation of G-quadruplexes (G4) structures within the XDP-SVA that impede transcription. In this study, we show that ZNF91, a critical repressor of SVA retrotransposons, specifically binds to G4-forming DNA sequences.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!