Case report
First case report of X linked dystonia parkinsonism (XDP) or ‘lubag’ in Australia

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Summary

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.

Introduction

X linked dystonia parkinsonism (XDP) or ‘lubag’ is a rare heredofamilial dystonia (DYT3) described in Filipino males. We describe the first case seen in an Australian hospital supported by DNA linkage analysis and provide a brief overview of the condition.

Section snippets

Case

The patient, a 42 year old male, was born in Negros as were his parents. His paternal great grandparents were from Panay. The patient’s brother has a ten year history of uncharacterised involuntary neck movements. Our patient presented with a history of repetitive jaw contractions progressing over six months to a severe generalised dystonia manifested by torticollis, retrocollis, upper and lower limb hyperextension, and mandibular thrusting. Neurological examination revealed saccadic pursuit,

Methods

In order to confirm the patient was a carrier of the XDP haplotype we performed PCR amplification of microsatellite markers in and around the previously reported segregating region on chromosome 13 X (spanning approximately 400 kb) using the technique described elsewhere.1 For comparison, confirmed XDP cases were run in parallel.

Results

We confirmed that the subject possesses the segregating haplotype ZFP261 150bp, DXS10017 292bp and DXS10018 140bp.

Discussion

XDP, or lubag, is endemic on the island of Panay, its establishment is based on a founder mutation event 2000 years ago carrying high penetrance.2 Around 300 cases have been described. Lubag manifests in the fourth or fifth decade as a focal, multifocal, or generalised dystonia variably admixed with signs of parkinsonism. Phenotypic expression can include chorea, myoclonus, and myorhythmia.3 Predominant, or even isolated, parkinsonism tends to be associated with a more favorable prognosis.4

Its

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.

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