3041 Case report: infratentorial superficial siderosis due to spinal dural tear

undergo telehealth assessments at baseline, 18 and 36 months and surveys to assess utility of and attitudes toward genomic testing.Whole genome sequencing will be performed through GP2 and genetic results returned to participants.Cost-effectiveness will be assessed.Results Approximately 2200 APGS participants are eligible for MonoPDAus based on onset age and family history.Recruitment from APGS to MonoPDAus will commence this year.Direct recruitment to the GP2 Monogenic Network has commenced (n = 50)sequencing data for these participants is undergoing variant filtration.Conclusion By offering the genetic sequencing capabilities of GP2 to a large Australian PD population, MonoPDAus promises to provide a comprehensive characterisation of monogenic PD.

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Publication Details

Published
2024-08-01
DOI
https://doi.org/10.1136/bmjno-2024-anzan.62
Primary Topic
Intracerebral and Subarachnoid Hemorrhage Research
Type
article
Field-Weighted Citation Impact
0.00
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article

3041 Case report: infratentorial superficial siderosis due to spinal dural tear

Sarah Katherine Morgan, Kuhilan Gounder, Constantine Phatouros, Tom Jenkins
Intracerebral and Subarachnoid Hemorrhage Research
article

3041 Case report: infratentorial superficial siderosis due to spinal dural tear

Sarah Katherine Morgan, Kuhilan Gounder, Constantine Phatouros, Tom Jenkins
article en

Abstract

undergo telehealth assessments at baseline, 18 and 36 months and surveys to assess utility of and attitudes toward genomic testing.Whole genome sequencing will be performed through GP2 and genetic results returned to participants.Cost-effectiveness will be assessed.Results Approximately 2200 APGS participants are eligible for MonoPDAus based on onset age and family history.Recruitment from APGS to MonoPDAus will commence this year.Direct recruitment to the GP2 Monogenic Network has commenced (n = 50)sequencing data for these participants is undergoing variant filtration.Conclusion By offering the genetic sequencing capabilities of GP2 to a large Australian PD population, MonoPDAus promises to provide a comprehensive characterisation of monogenic PD.

Sir Charles Gairdner Hospital (AU), St John of God Hospital (AU)
Climate action
Openalex Percentile: Top 79%
Intracerebral and Subarachnoid Hemorrhage Research
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