Reply: Dystonia after severe head injuries

Albanese, Alberto; Bhatia, Kailash P.; Bressman, Susan; DeLong, Mahlon R.; Fahn, Stanley; Fung, Victor S.C.; Hallett, Mark; Jankovic, Joseph; Jinnah, Hyder A.; Klein, Christine; Lang, Anthony E.; Mink, Jonathan W.; Teller, Jan K.

doi:10.1002/mds.25861

Cited by 3 publications

(2 citation statements)

References 3 publications

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“…Dystonia is a neurologic disorder that is characterized by sustained or intermittent muscle contractions resulting in abnormal, often repetitive, movements, postures, or both. 1 Dystonia may be classified according to its clinical characteristics and its presumed etiology. Clinical characteristics that are used in the current classification scheme include age of onset, bodily distribution, temporal pattern, and presence or absence of another movement disorder.…”

Section: Introductionmentioning

confidence: 99%

Neuropathology of Dystonia

Sharma

2019

Tremor and Other Hyperkinetic Movements

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BackgroundDystonia is characterized by sustained or intermittent muscle contractions resulting in abnormal, often repetitive, movements, postures, or both. Neuropathologic research has been essential in understanding the etiology and disease progression of other movement disorders, including Parkinson’s disease and cerebellar ataxias. In the field of dystonia, however, research is stymied by the paucity of post-mortem tissue available and the phenotypic heterogeneity found in those with dystonia.MethodsA PubMed search was conducted using the term “neuropathology of dystonia”. The resulting list of references was limited to English-language human neuropathology articles. A total of 20 publications were retrieved and reviewed.ResultsHistorically, based on study of acquired forms of dystonia, lesions of the putamen and globus pallidus have been identified as causing dystonia. After the identification of genetic causes of dystonia and the study of limited tissue available from those cases, as well as findings from cases of isolated focal and segmental dystonia, there is evidence that brainstem cholinergic neurons and specific cell populations within the cerebellum also play a role in the pathophysiology of dystonia.DiscussionBased on limited available brain tissue, there is evidence that the pathophysiology of dystonia may involve a combination of dysfunction within neurons of the brainstem, cerebellum, putamen, and globus pallidus. In order to gain a better understanding of the pathophysiology of dystonia, a prospective, quantitative study in well-phenotyped subjects with different types of genetic and isolated dystonia is required.

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