| Rare causes of dystonia parkinsonism. | |
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MedLine Citation:
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PMID: 20694531 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The list of genetic causes of syndromes of dystonia parkinsonism grows constantly. As a consequence, the diagnosis becomes more and more challenging for the clinician. Here, we summarize the important causes of dystonia parkinsonism including autosomal-dominant, recessive, and x-linked forms. We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. They have in common that in all these syndromes there may be a combination of dystonic and parkinsonian features, which may be complicated by pyramidal tract involvement. The aim of this review is to familiarize the clinician with the phenotypes of these disorders. |
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Authors:
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Susanne A Schneider; Kailash P Bhatia |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Current neurology and neuroscience reports Volume: 10 ISSN: 1534-6293 ISO Abbreviation: Curr Neurol Neurosci Rep Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-09-21 Completed Date: 2011-01-11 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100931790 Medline TA: Curr Neurol Neurosci Rep Country: United States |
Other Details:
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Languages: eng Pagination: 431-9 Citation Subset: IM |
Affiliation:
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Sobell Department for Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK. susanne.schneider@neuro.uni-luebeck.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Diagnosis, Differential Dystonic Disorders / complications, etiology*, genetics Humans Parkinsonian Disorders / complications, etiology*, genetics Phenotype |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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