TY - JOUR
T1 - Neuropathology of blepharospasm
AU - Fagan, Maggie
AU - Scorr, Laura
AU - Bernhardt, Doug
AU - Hess, Ellen J.
AU - Perlmutter, Joel S.
AU - Pardo, Carlos A.
AU - Jinnah, H. A.
N1 - Funding Information:
This work was supported by a research grant from the Benign Essential Blepharospasm Research Foundation. It was also supported in part by grants to The Dystonia Coalition (NS065701, TR001456, NS116025) which is part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported by the Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Sciences (NCATS), and the National Institute of Neurological Diseases and Stroke (NINDS) as well as NS119831. Joel S Perlmutter also was supported by NIH (NINDS/NIA) NS075321, the American Parkinson Disease Association (APDA), the Greater St. Louis Chapter of the APDA, the Barnes Jewish Hospital Foundation (Elliot Stein Family Fund), the Oertli Fund, the Murphy Fund and the Paula and Rodger Riney Fund. Carlos A. Pardo was also supported by Bart McLean Fund for Neuroimmunology Research. Brains for these studies were generously provided by the National Institutes of Health NeuroBiobank, Banner Sun Health Research Institute Brain and Body Donation Program, Washington University in St. Louis, and the Emory Alzheimer's Disease Research Center. The authors have no relevant conflicts of interest.
Funding Information:
This work was supported by a research grant from the Benign Essential Blepharospasm Research Foundation . It was also supported in part by grants to The Dystonia Coalition ( NS065701 , TR001456 , NS116025 ) which is part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN) , supported by the Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Sciences (NCATS) , and the National Institute of Neurological Diseases and Stroke (NINDS) as well as NS119831 . Joel S Perlmutter also was supported by NIH (NINDS/NIA) NS075321 , the American Parkinson Disease Association (APDA) , the Greater St. Louis Chapter of the APDA , the Barnes Jewish Hospital Foundation (Elliot Stein Family Fund) , the Oertli Fund , the Murphy Fund and the Paula and Rodger Riney Fund . Carlos A. Pardo was also supported by Bart McLean Fund for Neuroimmunology Research . Brains for these studies were generously provided by the National Institutes of Health NeuroBiobank, Banner Sun Health Research Institute Brain and Body Donation Program, Washington University in St. Louis, and the Emory Alzheimer's Disease Research Center. The authors have no relevant conflicts of interest.
Publisher Copyright:
© 2021 Elsevier Inc.
PY - 2021/12
Y1 - 2021/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85114605073&partnerID=8YFLogxK
U2 - 10.1016/j.expneurol.2021.113855
DO - 10.1016/j.expneurol.2021.113855
M3 - Article
C2 - 34464652
AN - SCOPUS:85114605073
SN - 0014-4886
VL - 346
JO - Experimental Neurology
JF - Experimental Neurology
M1 - 113855
ER -