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Brain Communications
Article . 2023 . Peer-reviewed
License: CC BY
Data sources: Crossref
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PubMed Central
Article . 2023
License: CC BY
Data sources: PubMed Central
https://dx.doi.org/10.60692/sp...
Other literature type . 2023
Data sources: Datacite
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Other literature type . 2023
Data sources: Datacite
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Establishing a natural history of X-linked dystonia parkinsonism

إنشاء تاريخ طبيعي من خلل التوتر المرتبط بـ X
Authors: Patrick Acuña; D. Cristopher Bragg; Neil A Spencer; Jan K. De Guzman; Massimiliano Russo; Amelia R. Hunt; Christopher D. Stephen; +14 Authors

Establishing a natural history of X-linked dystonia parkinsonism

Abstract

Abstract X-linked dystonia parkinsonism is a neurodegenerative movement disorder that affects men whose mothers originate from the island of Panay, Philippines. Current evidence indicates that the most likely cause is an expansion in the TAF1 gene that may be amenable to treatment. To prepare for clinical trials of therapeutic candidates for X-linked dystonia parkinsonism, we focused on the identification of quantitative phenotypic measures that are most strongly associated with disease progression. Our main objective is to establish a comprehensive, quantitative assessment of movement dysfunction and bulbar motor impairments that are sensitive and specific to disease progression in persons with X-linked dystonia parkinsonism. These measures will set the stage for future treatment trials. We enrolled patients with X-linked dystonia parkinsonism and performed a comprehensive oromotor, speech and neurological assessment. Measurements included patient-reported questionnaires regarding daily living activities and both neurologist-rated movement scales and objective quantitative measures of bulbar function and nutritional status. Patients were followed for 18 months from the date of enrollment and evaluated every 6 months during that period. We analysed a total of 87 men: 29 were gene-positive and had symptoms at enrollment, seven were gene-positive and had no symptoms at enrollment and 51 were gene-negative. We identified measures that displayed a significant change over the study. We used principal variables analysis to identify a minimal battery of 21 measures that explains 67.3% of the variance over the course of the study. These measures included patient-reported, clinician-rated and objective quantitative outcomes that may serve as endpoints in future clinical trials.

Keywords

Psychiatry, Deep Brain Stimulation for Neurological Disorders, Parkinsonism, Pediatrics, Treatment, Clinical trial, FOS: Psychology, Dystonia, Neurology, Physical medicine and rehabilitation, Health Sciences, Medicine, Psychology, Original Article, Disease, Botulinum Toxin in Neurology and Medicine, Movement disorders, Physical therapy, Internal medicine, Pathophysiology of Parkinson's Disease

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
16
Top 10%
Top 10%
Top 10%
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