Abstract
To present the first genetically supported case of X linked dystonia parkinsonism (XDP) or 'lubag' reported in an Australian hospital. We performed PCR amplification of microsatellite markers in and around the previously described segregating region for the XDP haplotype. Linkage was confirmed using markers ZNF261, DXS10017, and DXS10018. 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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