First case report of X linked dystonia parkinsonism (XDP) or 'lubag' in Australia.
OBJECTIVE
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.


CONCLUSIONS
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.
Plummer
C
C
St Vincent's Hospital, Melbourne, Victoria, Australia. chrisplummer@ozemail.com.au
Bradfield
J
J
Singleton
A B
AB
Hernandez
D
D
Singleton
A A
AA
O'sullivan
J
J
D000328:Adult; D001315:Australia; D020821:Dystonic Disorders / Q000235:genetics* / Q000503:physiopathology; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000503:physiopathology; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000503:physiopathology; D016133:Polymerase Chain Reaction
D005819:Genetic Markers