Neuropathology of blepharospasm.
Journal
Experimental neurology
ISSN: 1090-2430
Titre abrégé: Exp Neurol
Pays: United States
ID NLM: 0370712
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
received:
25
06
2021
revised:
18
08
2021
accepted:
27
08
2021
pubmed:
1
9
2021
medline:
21
12
2021
entrez:
31
8
2021
Statut:
ppublish
Résumé
The dystonias are a group of disorders characterized by excessive muscle contractions leading to abnormal repetitive movements or postures. In blepharospasm, the face is affected, leading to excessive eye blinking and spasms of muscles around the eyes. The pathogenesis of blepharospasm is not well understood, but several imaging studies have implied subtle structural defects in several brain regions, including the cerebellum. To delineate cerebellar pathology in brains collected at autopsy from 7 human subjects with blepharospasm and 9 matched controls. Sections from 3 cerebellar regions were sampled and processed using Nissl and silver impregnation stains. Purkinje neurons were the focus of the evaluation, along with as several other subtle pathological features of cerebellar dysfunction such as Purkinje neuron axonal swellings (torpedo bodies), proliferation of basket cell processes around Purkinje neurons (hairy baskets), empty baskets (missing Purkinje neurons), and displacement of cell soma from their usual location (ectopic Purkinje neurons). The results revealed a significant reduction in Purkinje neuron and torpedo body density, but no changes in any of the other measures. These findings demonstrate subtle neuropathological changes similar to those reported for subjects with cervical dystonia. These findings may underly some of the subtle imaging changes reported for blepharospasm.
Sections du résumé
BACKGROUND
The dystonias are a group of disorders characterized by excessive muscle contractions leading to abnormal repetitive movements or postures. In blepharospasm, the face is affected, leading to excessive eye blinking and spasms of muscles around the eyes. The pathogenesis of blepharospasm is not well understood, but several imaging studies have implied subtle structural defects in several brain regions, including the cerebellum.
OBJECTIVE
To delineate cerebellar pathology in brains collected at autopsy from 7 human subjects with blepharospasm and 9 matched controls.
METHODS
Sections from 3 cerebellar regions were sampled and processed using Nissl and silver impregnation stains. Purkinje neurons were the focus of the evaluation, along with as several other subtle pathological features of cerebellar dysfunction such as Purkinje neuron axonal swellings (torpedo bodies), proliferation of basket cell processes around Purkinje neurons (hairy baskets), empty baskets (missing Purkinje neurons), and displacement of cell soma from their usual location (ectopic Purkinje neurons).
RESULTS
The results revealed a significant reduction in Purkinje neuron and torpedo body density, but no changes in any of the other measures.
CONCLUSIONS
These findings demonstrate subtle neuropathological changes similar to those reported for subjects with cervical dystonia. These findings may underly some of the subtle imaging changes reported for blepharospasm.
Identifiants
pubmed: 34464652
pii: S0014-4886(21)00263-6
doi: 10.1016/j.expneurol.2021.113855
pmc: PMC8490317
mid: NIHMS1739566
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
113855Subventions
Organisme : NINDS NIH HHS
ID : R01 NS075321
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS065701
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS116025
Pays : United States
Organisme : NCATS NIH HHS
ID : U54 TR001456
Pays : United States
Informations de copyright
Copyright © 2021 Elsevier Inc. All rights reserved.
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