Journal
MOVEMENT DISORDERS
Volume 24, Issue 4, Pages 490-499Publisher
WILEY
DOI: 10.1002/mds.22314
Keywords
dystonia; parkinsonism; genetic; recessive; NBIA
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Funding
- Brain Research Trust. UK
- Bachmann Strauss Foundation
- MRC [G0701075] Funding Source: UKRI
- Medical Research Council [G0701075] Funding Source: researchfish
- Parkinson's UK [G-0907] Funding Source: researchfish
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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. (C) 2009 Movement Disorder Society
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