ABSTRACT
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.
Subject(s)
Dystonic Disorders/genetics , Genetic Diseases, X-Linked/genetics , Parkinsonian Disorders/genetics , Adult , Australia , Dystonic Disorders/physiopathology , Genetic Diseases, X-Linked/physiopathology , Genetic Linkage , Genetic Markers , Haplotypes , Humans , Male , Microsatellite Repeats/genetics , Parkinsonian Disorders/physiopathology , Polymerase Chain ReactionABSTRACT
The authors recently have shown that triplication of the alpha-synuclein gene (SNCA) can cause Parkinson disease (PD) and diffuse Lewy body disease within the same kindred. The authors assessed 101 familial PD probands, 325 sporadic PD cases, 65 patients with dementia with Lewy bodies, and 366 neurologically normal control subjects for SNCA multiplication. The authors did not identify any subjects with multiplication of SNCA and conclude this mutation is a rare cause of disease.
