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.
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.