Title: Parkinsonism in diseases predominantly presenting with dystonia
Abstract: If the presence of dystonia is a well-recognized phenomenon in disorders predominantly presenting with parkinsonism, including sporadic Parkinson Disease, the term dystonia-parkinsonism usually refers to rare conditions, often genetic, in which the severity of dystonia usually equates that of parkinsonism. At variance with parkinsonian syndromes with additional dystonia, the conditions reviewed in this chapter have usually their onset in childhood and their diagnostic work-up is different. In fact, the phenotype is not usually specific of the underlying defect and additional investigations are therefore required. Here, we review the diseases predominantly presenting with dystonia where parkinsonism can develop, according to their main pathophysiological mechanism including disorders of dopamine biosynthesis, neurotransmitter transporter disorders, disorder of metal metabolism (i.e., iron, copper and manganese) and other inherited dystonia-parkinsonism conditions.
Publication Year: 2019
Publication Date: 2019-01-01
Language: en
Type: review
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 5
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