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Review
. 2010 Oct;3(2):32-8.
doi: 10.14802/jmd.10009. Epub 2010 Oct 30.

X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics

Raymond L Rosales  1
Affiliations
Review

X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics

Raymond L Rosales. J Mov Disord. 2010 Oct.

Abstract

The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP) is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of "status dystonicus," challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.

Keywords: DYT3; Dystonia; Lubag; Parkinsonism.

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Figures

Figure 1
Figure 1
Truncal (Axial) dystonia in XDP. XDP: X-Linked Dystonia Parkinsonism.
See this image and copyright information in PMC

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References

    1. Lee LV, Pascasio FM, Fuentes FD, Viterbo GH. Torsion dystonia in Panay, Philippines. Adv Neurol. 1976;14:137–151. - PubMed
    1. Lee LV, Rivera C, Teleg RA, Dantes MB, Pasco PM, Jamora RD, et al. The Unique Phenomenology of Sex-Linked Dystonia Parkinsonism (XDP, DYT3, “Lubag”) Int J Neurosci. In press. - PubMed
    1. Lee LV, Kupke KG, Caballar-Gonzaga F, Hebron-Ortiz M, Müller U. The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines. Medicine (Baltimore) 1991;70:179–187. - PubMed
    1. Lee LV, Munoz EL, Tan KT, Reyes MT. Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP) Mol Pathol. 2001;54:362–368. - PMC - PubMed
    1. Lee LV, Maranon E, Demaisip C, Peralta O, Borres-Icasiano R, Arancillo J, et al. The natural history of sex-linked recessive dystonia parkinsonism of Panay, Philippines (XDP) Parkinsonism Relat Disord. 2002;9:29–38. - PubMed

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