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- W2158805605 abstract "The dystonias comprise a heterogeneous group of hyperkinetic movement disorders characterized by involuntary muscle contractions that manifest as twisting, repetitive movements and abnormal postures. They are often misdiagnosed or unrecognized (Muller, 2009). These neurological syndromes are mainly of genetic origin and usually are not associated with gross neuropathological changes. Neurophysiological studies, imaging data and pathological findings support the hypothesis that multiple striatal, cortical, dopaminergic and cholinergic dysfunctions cause the motor alterations in the various forms of dystonias (Phukan et al. , 2011).Among the various primary dystonias, a form of adult-onset X-linked dystonia-parkinsonism (MIM314250), also known as DYT3 dystonia or ‘Lubag’ disease, has been described. It was reported for the first time in Filipino males from Panay Island. X-linked dystonia-parkinsonism appears predominantly as torsion dystonia, later either combined or replaced with parkinsonism. In females it has been reported in a milder clinical form with minor motor symptoms represented by parkinsonism and cervical dystonia and showing either slow or no clinical progression (Lee et al. , 2011).X-linked dystonia-parkinsonism is associated with sequence changes within the TAF1/DYT3 multiple transcript system. It has been postulated that this system might be linked with dopaminergic transmission, potentially explaining the parkinsonism observed in most patients in the late stages of the disease (Herzfeld et al. , 2013).Some clinical observations seem to correlate the pathophysiology of X-linked dystonia-parkinsonism with the dopaminergic basal ganglia circuit dysfunction that characterizes Parkinson’s disease. Hyposmia, a pre-motor symptom frequently reported in patients with Parkinson’s disease has also been demonstrated to occur in X-linked dystonia-parkinsonism (Evidente et al. , 2004). Moreover, bilateral pallidal stimulation, a therapeutic approach successfully utilized in Parkinson’s disease, also ameliorates symptoms in patients with X-linked dystonia-parkinsonism (Fig. 1) (Evidente et al. , 2007). Other findings argue against this view. Indeed, although a selective reduction …" @default.
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- W2158805605 date "2013-04-18" @default.
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- W2158805605 title "A pathophysiological link between dystonia, striatal interneurons and neuropeptide Y" @default.
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- W2158805605 doi "https://doi.org/10.1093/brain/awt096" @default.
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