Complicated recessive dystonia parkinsonism syndromes.
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.
Schneider
Susanne A
SA
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom.
Bhatia
Kailash P
KP
Hardy
John
J
D001921:Brain / Q000378:metabolism / Q000473:pathology; D003937:Diagnosis, Differential; D004421:Dystonia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D044783:F-Box Proteins / Q000235:genetics; D054522:Group VI Phospholipases A2 / Q000235:genetics; D051548:Histone Acetyltransferases; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D007501:Iron / Q000378:metabolism; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000150:complications; D015513:Oncogene Proteins / Q000235:genetics; D020734:Parkinsonian Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases / Q000235:genetics; D035381:TATA-Binding Protein Associated Factors / Q000235:genetics; D035362:Transcription Factor TFIID / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D000099202:PTEN-Induced Putative Kinase
D044783:F-Box Proteins; D054522:Group VI Phospholipases A2; D051548:Histone Acetyltransferases; D047908:Intracellular Signaling Peptides and Proteins; D007501:Iron; D015513:Oncogene Proteins; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D035381:TATA-Binding Protein Associated Factors; D035362:Transcription Factor TFIID; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C489149:FBXO7 protein, human; C111567:parkin protein; C069001:TATA-binding protein associated factor 250 kDa; C516475:PLA2G6 protein, human; C105131:PARK7 protein, human