Abstract
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.
2009 Movement Disorder Society
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Brain / metabolism
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Brain / pathology
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Diagnosis, Differential
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Dystonia / complications*
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Dystonia / diagnosis
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Dystonia / genetics
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F-Box Proteins / genetics
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Group VI Phospholipases A2 / genetics
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Histone Acetyltransferases
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Humans
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Intracellular Signaling Peptides and Proteins / genetics
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Iron / metabolism
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Mutation
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Neurodegenerative Diseases / complications
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Oncogene Proteins / genetics
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Parkinsonian Disorders / complications*
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Parkinsonian Disorders / diagnosis
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Parkinsonian Disorders / genetics
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Protein Deglycase DJ-1
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Protein Kinases / genetics
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TATA-Binding Protein Associated Factors / genetics
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Transcription Factor TFIID / genetics
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Ubiquitin-Protein Ligases / genetics
Substances
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F-Box Proteins
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FBXO7 protein, human
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Intracellular Signaling Peptides and Proteins
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Oncogene Proteins
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TATA-Binding Protein Associated Factors
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Transcription Factor TFIID
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Iron
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Histone Acetyltransferases
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Ubiquitin-Protein Ligases
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parkin protein
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Protein Kinases
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PTEN-induced putative kinase
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TATA-binding protein associated factor 250 kDa
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Group VI Phospholipases A2
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PLA2G6 protein, human
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PARK7 protein, human
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Protein Deglycase DJ-1