Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia · 2005
First case report of X linked dystonia parkinsonism (XDP) or 'lubag' in Australia.
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Plummer C, Bradfield J, Singleton A B, Hernandez D, Singleton A A, O'sullivan J
Аннотация
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.
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.