- The nature of postural tremor in Parkinson disease. [Journal Article]
- NeurNeurology 2018 Feb 23
- CONCLUSIONS: There are 2 distinct postural tremor phenotypes in PD, which have a different pathophysiology and require different treatment. Re-emergent tremor is a continuation of resting tremor during stable posturing, and it has a dopaminergic basis. Pure postural tremor is a less common type of tremor that is inherent to PD, but has a largely nondopaminergic basis.
- Outcome measures for children with movement disorders. [Review]
- EJEur J Paediatr Neurol 2018 Feb 08
- The huge contribution of advances in the pediatric neurosciences, improvements in clinical practice, and new therapeutic options, has led to the development of new models of treatment and rehabilitat...
The huge contribution of advances in the pediatric neurosciences, improvements in clinical practice, and new therapeutic options, has led to the development of new models of treatment and rehabilitation for dystonia in the last decade. It is now generally agreed that a multidimensional therapeutic approach is needed for children with motor disorders, whose motor function-conceived as a complex perceptive, motor and cognitive process - is impaired at a crucial time in their development, with a fall out on how their various adaptive functions evolve. Neurophysiological studies, modern neuroimaging techniques, and advances in cognitive psychology have all contributed to improving our understanding of the potential effects of treatments in early age - not only on the symptoms, but also on plasticity processes and neuronal reorganization. The International Classification of Functioning, Disability and Health (ICF) promoted by the WHO, and the diffusion of family-centered models of healthcare have underscored the importance of the ecological perspective with a view to providing effective therapies and a satisfactory quality of life for dystonic children and their families. The advances made in this area have made it necessary to study and develope more appropriate treatment outcome measures. In the light of these aspects, there is still not enough literature on the generally-accepted, exhaustive dystonia assessment tools. Given these limits, it might be useful to discuss the strengths and weaknesses of the main tools currently used in this setting.
- Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. [Journal Article]
- CellCell 2018 Feb 22; 172(5):897-909.e21
- X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is endemic to the Philippines and is associated with a founder haplotype. We integrated multiple genome and transcri...
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is endemic to the Philippines and is associated with a founder haplotype. We integrated multiple genome and transcriptome assembly technologies to narrow the causal mutation to the TAF1 locus, which included a SINE-VNTR-Alu (SVA) retrotransposition into intron 32 of the gene. Transcriptome analyses identified decreased expression of the canonical cTAF1 transcript among XDP probands, and de novo assembly across multiple pluripotent stem-cell-derived neuronal lineages discovered aberrant TAF1 transcription that involved alternative splicing and intron retention (IR) in proximity to the SVA that was anti-correlated with overall TAF1 expression. CRISPR/Cas9 excision of the SVA rescued this XDP-specific transcriptional signature and normalized TAF1 expression in probands. These data suggest an SVA-mediated aberrant transcriptional mechanism associated with XDP and may provide a roadmap for layered technologies and integrated assembly-based analyses for other unsolved Mendelian disorders.
- Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key. [Journal Article]
- CellCell 2018 Feb 22; 172(5):889-891
- Despite revolutionary advances in sequencing approaches, many mendelian disorders have remained unexplained. In this issue of Cell, Aneichyk et al. combine genomic and cell-type-specific transcriptom...
Despite revolutionary advances in sequencing approaches, many mendelian disorders have remained unexplained. In this issue of Cell, Aneichyk et al. combine genomic and cell-type-specific transcriptomic data to causally link a non-coding mutation in the ubiquitous TAF1 gene to X-linked dystonia-parkinsonism.
- Pramipexole-induced antecollis in patients with Parkinson's disease: Two cases and literature review. [Journal Article]
- EeNeurologicalSci 2015; 1:21-23
- Antecollis is considered to be relatively rare in Parkinson's disease (PD). Few cases of dopamine agonist-induce antecollis in PD have been reported. We described literature review of 12 PD patients ...
Antecollis is considered to be relatively rare in Parkinson's disease (PD). Few cases of dopamine agonist-induce antecollis in PD have been reported. We described literature review of 12 PD patients including our 2 cases with pramipexole (PPX)-induced antecollis. The patients were predominantly Japanese, women and above 3 of Hoehn and Yahr stage. PPX-induced antecollis in PD was considered a type of dystonia of flexor neck muscle, and was improved soon after cessation or reduction of PPX. Our two cases improved their antecollis by overnight changing from PPX to ropinirole without deteriorating motor functions. Overnight switching of DA was considered useful as one option in the treatment of antecollis.
- Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia. [Journal Article]
- NNeuropediatrics 2018 Feb 22
- Bilateral Striatal Necrosis after Sydenham's Chorea in a 7-Year-Old Boy: A 2-Year Follow-Up. [Journal Article]
- NNeuropediatrics 2018 Feb 22
- Child bilateral striatal necrosis (BSN) is a rare and etiologically heterogeneous condition. An association with group A streptococcus (GAS) infection was previously reported in two cases of BSN in i...
Child bilateral striatal necrosis (BSN) is a rare and etiologically heterogeneous condition. An association with group A streptococcus (GAS) infection was previously reported in two cases of BSN in infancy and early childhood. We here report on a 7-year-old boy who developed chorea and dystonia 20 days after symptomatic recovery from Sydenham's chorea. Repeated brain magnetic resonance imaging scans, obtained before, soon after the onset of the post-Sydenham symptoms, and 1 year later were consistent with an evolution from bilateral striatal microbleeding to necrosis, and consequently reduced basal ganglia volume and enlargement of the frontal horns. No support was found for other possible autoimmune, infectious, metabolic, toxic or genetic etiologies for BSN. Prednisone treatment was instituted and continued for 1 year. Two years after the onset of the post-Sydenham symptoms, the child, although much improved, still has generalized dystonic-choreic movements. This case confirms and extends into school age, the link between GAS and BSN.
- Heterozygous Mutations in Gtp-Cyclohydrolase-1 Reduce Bh4 Biosynthesis but Not Pain Sensitivity. [Journal Article]
- PAINPain 2018 Feb 20
- CONCLUSIONS: a reduced concentration of BH4 is not sufficient to alter ongoing pain sensitivity or evoked pain responses.
- Motor fluctuations and levodopa-induced dyskinesias in dopa-responsive dystonia. [Letter]
- PRParkinsonism Relat Disord 2018 Feb 08
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- Quantitative, clinically relevant acoustic measurements of focal embouchure dystonia. [Journal Article]
- MDMov Disord 2018 Feb 20
- CONCLUSIONS: Acoustic variables distinguish musicians with embouchure dystonia from controls and reflect different types of symptomatic impairments. Our composite acoustic severity score predicts severity of clinical global impression for musicians with different patterns of symptomatic impairment and may provide a foundation for developing a clinical rating scale. © 2018 International Parkinson and Movement Disorder Society.