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Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
First case report of X linked dystonia parkinsonism (XDP) or 'lubag' in Australia
C Plummer1, J Bradfield, A B Singleton
1St Vincent's Hospital, Melbourne, Victoria, Australia. chrisplummer@ozemail.com.au
Purpose:
To present the first genetically supported case of X linked dystonia parkinsonism (XDP) or 'lubag' reported in an Australian hospital.
Methods:
We performed PCR amplification of microsatellite markers in and around the previously described segregating region for the XDP haplotype.
Results:
Linkage was confirmed using markers ZNF261, DXS10017, and DXS10018.
Conclusion:
We present the first case of XDP or 'lubag' reported in an Australian hospital. It highlights the enlarging role of genetic testing in facilitating the diagnosis of dystonia in a clinical environment where a disease like XDP is rare, and where a corroborating family history may be unavailable.
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