Objective: 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 (XDP)

Background: X-linked dystonia parkinsonism (XDP) 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. This is the first attempt to follow genetically positive males in a systematic longitudinal manner.

Method: We enrolled patients with XDP 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 analyzed a total of 87 men: 29 were gene positive and had symptoms at enrollment, 7 were gene positive and had no symptoms at enrollment, and 51 were gene negative.

Results: 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 that included patient-reported, clinician-rated, and objective quantitative outcome.

Conclusion: These 21 measures included patient-reported, clinician-rated, and objective quantitative outcomes that may serve as endpoints in future clinical trials. An ongoing study is being conducted to validate these 21 measures.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/establishing-a-natural-history-of-x-linked-dystonia-parkinsonism/