Neuropathology of Dystonia

Overview

Journal Tremor Other Hyperkinet Mov (N Y)

Publisher Ubiquity Press

Date 2019 Mar 20

PMID 30886764

Citations 9

Authors

Nutan Sharma

Affiliations

Soon will be listed here.

Abstract

Background: Dystonia 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.

Methods: A 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.

Results: Historically, 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.

Discussion: Based 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.

Citing Articles

Atrophy of cerebellar lobule VI and primary motor cortex in cervical dystonia - a region of interest-based study.

Grimm K, Sadeghi F, Schon G, Okar A, Gelderblom M, Schulz R J Neural Transm (Vienna). 2024; 132(2):257-264.

PMID: 39370479 PMC: 11785648. DOI: 10.1007/s00702-024-02839-2.

Does botulinum toxin affect psycho-social aspects in dystonia?.

Marfoli A, Mameli F, Aiello E, Ruggiero F, De Sandi A, Mellace D J Neural Transm (Vienna). 2024; 131(8):953-960.

PMID: 38832965 PMC: 11343871. DOI: 10.1007/s00702-024-02785-z.

The pathogenesis of blepharospasm.

Zhu L, Meng H, Zhang W, Xie W, Sun H, Hou S Front Neurol. 2024; 14:1336348.

PMID: 38274886 PMC: 10808626. DOI: 10.3389/fneur.2023.1336348.

Multimodal imaging of essential tremor and dystonic tremor.

Bedard P, Panyakaew P, Cho H, Hallett M, Horovitz S Neuroimage Clin. 2022; 36:103247.

PMID: 36451353 PMC: 9668651. DOI: 10.1016/j.nicl.2022.103247.

Vesicular Acetylcholine Transporter Alters Cholinergic Tone and Synaptic Plasticity in DYT1 Dystonia.

Tassone A, Martella G, Meringolo M, Vanni V, Sciamanna G, Ponterio G Mov Disord. 2021; 36(12):2768-2779.

PMID: 34173686 PMC: 9291835. DOI: 10.1002/mds.28698.

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