The Dystonias

McGeer, Edith G.; McGeer, Patrick L.

doi:10.1017/s0317167100028304

Cited by 42 publications

(10 citation statements)

References 585 publications

(308 reference statements)

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“…LeDoux focused specifically on 25 cases of secondary cervical dystonia and found 11 lesions in the brainstem or cerebellum, 6 in the basal ganglia, and 6 in the spinal cord (LeDoux and Brady, 2002). These results confirm that the type of dystonia may be related to the location of underlying lesions, a suggestion consistent with reviews of neuropathological findings (Hedreen et al, 1988; McGeer and McGeer, 1988). …”

Section: A Reappraisal Of the Evidencesupporting

confidence: 91%

The functional neuroanatomy of dystonia

Neychev

Gross

Lehericy

et al. 2011

Neurobiology of Disease

388

404

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Dystonia is a neurological disorder characterized by involuntary twisting movements and postures. There are many different clinical manifestations, and many different causes. The neuroanatomical substrates for dystonia are only partly understood. Although the traditional view localizes dystonia to basal ganglia circuits, there is increasing recognition that this view is inadequate for accommodating a substantial portion of available clinical and experimental evidence. A model in which several brain regions play a role in a network better accommodates the evidence. This network model accommodates neuropathological and neuroimaging evidence that dystonia may be associated with abnormalities in multiple different brain regions. It also accommodates animal studies showing that dystonic movements arise with manipulations of different brain regions. It is consistent with neurophysiological evidence suggesting defects in neural inhibitory processes, sensorimotor integration, and maladaptive plasticity. Finally, it may explain neurosurgical experience showing that targeting the basal ganglia is effective only for certain subpopulations of dystonia. Most importantly, the network model provides many new and testable hypotheses with direct relevance for new treatment strategies that go beyond the basal ganglia.

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Section: A Reappraisal Of the Evidencesupporting

confidence: 91%

The functional neuroanatomy of dystonia

Neychev

Gross

Lehericy

et al. 2011

Neurobiology of Disease

388

404

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show abstract

“…Human clinico-pathological and clinico-radiological studies linking lesions with dystonia are necessarily correlational, and they cannot establish causal links (Hedreen et al, 1988, McGeer and McGeer, 1988). The unexplained delays between lesion and symptom development imply adaptive changes that may be far from the original lesion.…”

Section: Introductionmentioning

confidence: 99%

Dystonia as a network disorder: What is the role of the cerebellum?

2014

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The dystonias are a group of disorders defined by sustained or intermittent muscle contractions that result in involuntary posturing or repetitive movements. There are many different clinical manifestations and causes. Although they traditionally have been ascribed to dysfunction of the basal ganglia, recent evidence has suggested dysfunction may originate from other regions, particularly the cerebellum. This recent evidence has led to an emerging view that dystonia is a network disorder that involves multiple brain regions. The new network model for the pathogenesis of dystonia has raised many questions, particularly regarding the role of the cerebellum. For example, if dystonia may arise from cerebellar dysfunction, then why are there no cerebellar signs in dystonia? Why are focal cerebellar lesions or degenerative cerebellar disorders more commonly associated with ataxia rather than dystonia? Why is dystonia more commonly associated with basal ganglia lesions rather than cerebellar lesions? Can answers obtained from animals be extrapolated to humans? Is there any evidence that the cerebellum is not involved? Finally, what is the practical value of this new model of pathogenesis for the neuroscientist and clinician? This article explores potential answers to these questions.

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“…In contrast, a cause is identifiable in secondary or acquired CD and may include medications, trauma, space-occupying lesions, and developmental or degenerative conditions. Although CD is the most common primary dystonia, conclusive evidence implicating specific regions of the nervous system is lacking (Hedreen et al , 1988; McGeer and McGeer, 1988; Standaert, 2011). A review of the literature disclosed only 15 reports, and no consistent neuropathological changes were noted (Table 1).…”

Section: Introductionmentioning

confidence: 99%

Neuropathology of cervical dystonia

Prudente

Pardo

Xiao

et al. 2013

Experimental Neurology

112

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The aim of this study was to search for neuropathological changes in postmortem brain tissue of individuals with cervical dystonia (CD). Multiple regions of formalin-preserved brains were collected from patients with CD and controls and examined with an extensive battery of histopathological stains in a two-stage study design. In stage one, 4 CD brains underwent a broad screening neuropathological examination. In stage two, these 4 CD brains were combined with 2 additional CD brains, and the subjective findings were quantified and compared to 16 age-matched controls. The initial subjective neuropathological assessment revealed only two regions with relatively consistent changes. The substantia nigra had frequent ubiquitin-positive intranuclear inclusions known as Marinesco bodies. Additionally, the cerebellum showed patchy loss of Purkinje cells, areas of focal gliosis and torpedo bodies. Other brain regions showed minor or inconsistent changes. In the second stage of the analysis, quantitative studies failed to reveal significant differences in the numbers of Marinesco bodies in CD versus controls, but confirmed a significantly lower Purkinje cell density in CD. Molecular investigations revealed 4 of the CD cases and 2 controls to harbor sequence variants in non-coding regions of THAP1, and these cases had lower Purkinje cell densities regardless of whether they had CD. The findings suggest that subtle neuropathological changes such as lower Purkinje cell density may be found in primary CD when relevant brain regions are investigated with appropriate methods.

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The Dystonias

Cited by 42 publications

References 585 publications

The functional neuroanatomy of dystonia

The functional neuroanatomy of dystonia

Dystonia as a network disorder: What is the role of the cerebellum?

Neuropathology of cervical dystonia

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