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Quantification of Behavioral Deficits in Developing Mice With Dystonic Behaviors. 发育期肌张力障碍小鼠行为缺陷的定量分析

Dystonia Pub Date : 2022-01-01 Epub Date: 2022-09-08 DOI: 10.3389/dyst.2022.10494

Meike E Van Der Heijden, Jason S Gill, Alejandro G Rey Hipolito, Luis E Salazar Leon, Roy V Sillitoe

{"title":"Quantification of Behavioral Deficits in Developing Mice With Dystonic Behaviors.","authors":"Meike E Van Der Heijden, Jason S Gill, Alejandro G Rey Hipolito, Luis E Salazar Leon, Roy V Sillitoe","doi":"10.3389/dyst.2022.10494","DOIUrl":"10.3389/dyst.2022.10494","url":null,"abstract":"Converging evidence from structural imaging studies in patients, the function of dystonia-causing genes, and the comorbidity of neuronal and behavioral defects all suggest that pediatric-onset dystonia is a neurodevelopmental disorder. However, to fully appreciate the contribution of altered development to dystonia, a mechanistic understanding of how networks become dysfunctional is required for early-onset dystonia. One current hurdle is that many dystonia animal models are ideally suited for studying adult phenotypes, as the neurodevelopmental features can be subtle or are complicated by broad developmental deficits. Furthermore, most assays that are used to measure dystonia are not suited for developing postnatal mice. Here, we characterize the early-onset dystonia in Ptf1a Cre ;Vglut2 fl/fl mice, which is caused by the absence of neurotransmission from inferior olive neurons onto cerebellar Purkinje cells. We investigate motor control with two paradigms that examine how altered neural function impacts key neurodevelopmental milestones seen in postnatal pups (postnatal day 7-11). We find that Ptf1a Cre ;Vglut2 fl/fl mice have poor performance on the negative geotaxis assay and the surface righting reflex. Interestingly, we also find that Ptf1a Cre ;Vglut2 fl/fl mice make fewer ultrasonic calls when socially isolated from their nests. Ultrasonic calls are often impaired in rodent models of autism spectrum disorders, a condition that can be comorbid with dystonia. Together, we show that these assays can serve as useful quantitative tools for investigating how neural dysfunction during development influences neonatal behaviors in a dystonia mouse model. Our data implicate a shared cerebellar circuit mechanism underlying dystonia-related motor signs and social impairments in mice.","PeriodicalId":72853,"journal":{"name":"Dystonia","volume":"1 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9182304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

From null to midline: changes in head posture do not predictably change head tremor in cervical dystonia. 从零到中线:头部姿势的改变不能预见地改变颈肌张力障碍患者的头颤。

Dystonia Pub Date : 2022-01-01 DOI: 10.3389/dyst.2022.10684

Jeanne P Vu, Elizabeth Cisneros, Jerry Zhao, Ha Yeon Lee, Joseph Jankovic, Stewart A Factor, Christopher G Goetz, Richard L Barbano, Joel S Perlmutter, Hyder A Jinnah, Sarah Pirio Richardson, Glenn T Stebbins, Rodger J Elble, Cynthia L Comella, David A Peterson

{"title":"From null to midline: changes in head posture do not predictably change head tremor in cervical dystonia.","authors":"Jeanne P Vu, Elizabeth Cisneros, Jerry Zhao, Ha Yeon Lee, Joseph Jankovic, Stewart A Factor, Christopher G Goetz, Richard L Barbano, Joel S Perlmutter, Hyder A Jinnah, Sarah Pirio Richardson, Glenn T Stebbins, Rodger J Elble, Cynthia L Comella, David A Peterson","doi":"10.3389/dyst.2022.10684","DOIUrl":"https://doi.org/10.3389/dyst.2022.10684","url":null,"abstract":"Introduction: A common view is that head tremor (HT) in cervical dystonia (CD) decreases when the head assumes an unopposed dystonic posture and increases when the head is held at midline. However, this has not been examined with objective measures in a large, multicenter cohort.Methods: For 80 participants with CD and HT, we analyzed videos from examination segments in which participants were instructed to 1) let their head drift to its most comfortable position (null point) and then 2) hold their head straight at midline. We used our previously developed Computational Motor Objective Rater (CMOR) to quantify changes in severity, amplitude, and frequency between the two postures.Results: Although up to 9% of participants had exacerbated HT in midline, across the whole cohort, paired t-tests reveal no significant changes in overall severity (t = -0.23, p = 0.81), amplitude (t = -0.80, p = 0.43), and frequency (t = 1.48, p = 0.14) between the two postures.Conclusions: When instructed to first let their head drift to its null point and then to hold their head straight at midline, most patient's changes in HT were below the thresholds one would expect from the sensitivity of clinical rating scales. Counter to common clinical impression, CMOR objectively showed that HT does not consistently increase at midline posture in comparison to the null posture.","PeriodicalId":72853,"journal":{"name":"Dystonia","volume":"1 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10128866/pdf/nihms-1880525.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9352836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

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