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Mov Disord. 2009 Mar 15;24(4):490-9. doi: 10.1002/mds.22314.

Complicated recessive dystonia parkinsonism syndromes.

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Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom.


In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene-proven cases. We concentrate on PANK2-, PLA2G6-, ATP13A2-, FBX07, TAF1-, and PRKRA-associated neurodegeneration. Parkin, PINK1, and DJ-1 are also briefly reviewed.

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