Pub Date : 2018-01-20DOI: 10.1007/s12311-017-0915-0
{"title":"8TH SRCA SYMPOSIUM ON THE CEREBELLUM: FROM DEVELOPMENT TO DISEASE","authors":"","doi":"10.1007/s12311-017-0915-0","DOIUrl":"https://doi.org/10.1007/s12311-017-0915-0","url":null,"abstract":"","PeriodicalId":22415,"journal":{"name":"The Cerebellum","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76696587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-04-01DOI: 10.1007/s12311-016-0823-8
E Y Scott, M C T Penedo, J D Murray, C J Finno
Equine cerebellar abiotrophy (CA) is a hereditary neurodegenerative disease that affects the Purkinje neurons of the cerebellum and causes ataxia in Arabian foals. Signs of CA are typically first recognized either at birth to any time up to 6 months of age. CA is inherited as an autosomal recessive trait and is associated with a single nucleotide polymorphism (SNP) on equine chromosome 2 (13074277G>A), located in the fourth exon of TOE1 and in proximity to MUTYH on the antisense strand. We hypothesize that unraveling the functional consequences of the CA SNP using RNA-seq will elucidate the molecular pathways underlying the CA phenotype. RNA-seq (100 bp PE strand-specific) was performed in cerebellar tissue from four CA-affected and five age-matched unaffected horses. Three pipelines for differential gene expression (DE) analysis were used (Tophat2/Cuffdiff2, Kallisto/EdgeR, and Kallisto/Sleuth) with 151 significant DE genes identified by all three pipelines in CA-affected horses. TOE1 (Log2(foldchange) = 0.92, p = 0.66) and MUTYH (Log2(foldchange) = 1.13, p = 0.66) were not differentially expressed. Among the major pathways that were differentially expressed, genes associated with calcium homeostasis and specifically expressed in Purkinje neurons, CALB1 (Log2(foldchange) = -1.7, p < 0.01) and CA8 (Log2(foldchange) = -0.97, p < 0.01), were significantly down-regulated, confirming loss of Purkinje neurons. There was also a significant up-regulation of markers for microglial phagocytosis, TYROBP (Log2(foldchange) = 1.99, p < 0.01) and TREM2 (Log2(foldchange) = 2.02, p < 0.01). These findings reaffirm a loss of Purkinje neurons in CA-affected horses along with a potential secondary loss of granular neurons and activation of microglial cells.
马小脑萎缩症（CA）是一种遗传性神经退行性疾病，会影响小脑的浦肯野神经元，导致阿拉伯马驹共济失调。CA的症状通常在马驹出生时或6个月大时首次出现。CA 为常染色体隐性遗传，与马 2 号染色体上的单核苷酸多态性 (SNP) 有关（13074277G>A），该多态性位于 TOE1 的第四外显子，在反义链上靠近 MUTYH。我们假设，利用 RNA-seq 来揭示 CA SNP 的功能性后果将能阐明 CA 表型的分子通路。我们在四匹受CA影响的马和五匹年龄匹配的未受影响的马的小脑组织中进行了RNA-seq（100 bp PE链特异性）。使用了三种差异基因表达（DE）分析管道（Tophat2/Cuffdiff2、Kallisto/EdgeR和Kallisto/Sleuth），所有三种管道在受CA影响的马匹中发现了151个重要的DE基因。TOE1（Log2（foldchange）= 0.92，p = 0.66）和 MUTYH（Log2（foldchange）= 1.13，p = 0.66）没有差异表达。在有差异表达的主要通路中，与钙稳态相关并在浦肯野神经元中特异表达的基因 CALB1（Log2（foldchange）=-1.7，p 2（foldchange）=-0.97，p 2（foldchange）=1.99，p 2（foldchange）=2.02，p 2（foldchange）=1.99，p 2（foldchange）=2.02。
{"title":"Defining Trends in Global Gene Expression in Arabian Horses with Cerebellar Abiotrophy.","authors":"E Y Scott, M C T Penedo, J D Murray, C J Finno","doi":"10.1007/s12311-016-0823-8","DOIUrl":"10.1007/s12311-016-0823-8","url":null,"abstract":"<p><p>Equine cerebellar abiotrophy (CA) is a hereditary neurodegenerative disease that affects the Purkinje neurons of the cerebellum and causes ataxia in Arabian foals. Signs of CA are typically first recognized either at birth to any time up to 6 months of age. CA is inherited as an autosomal recessive trait and is associated with a single nucleotide polymorphism (SNP) on equine chromosome 2 (13074277G>A), located in the fourth exon of TOE1 and in proximity to MUTYH on the antisense strand. We hypothesize that unraveling the functional consequences of the CA SNP using RNA-seq will elucidate the molecular pathways underlying the CA phenotype. RNA-seq (100 bp PE strand-specific) was performed in cerebellar tissue from four CA-affected and five age-matched unaffected horses. Three pipelines for differential gene expression (DE) analysis were used (Tophat2/Cuffdiff2, Kallisto/EdgeR, and Kallisto/Sleuth) with 151 significant DE genes identified by all three pipelines in CA-affected horses. TOE1 (Log<sub>2</sub>(foldchange) = 0.92, p = 0.66) and MUTYH (Log<sub>2</sub>(foldchange) = 1.13, p = 0.66) were not differentially expressed. Among the major pathways that were differentially expressed, genes associated with calcium homeostasis and specifically expressed in Purkinje neurons, CALB1 (Log<sub>2</sub>(foldchange) = -1.7, p < 0.01) and CA8 (Log<sub>2</sub>(foldchange) = -0.97, p < 0.01), were significantly down-regulated, confirming loss of Purkinje neurons. There was also a significant up-regulation of markers for microglial phagocytosis, TYROBP (Log<sub>2</sub>(foldchange) = 1.99, p < 0.01) and TREM2 (Log<sub>2</sub>(foldchange) = 2.02, p < 0.01). These findings reaffirm a loss of Purkinje neurons in CA-affected horses along with a potential secondary loss of granular neurons and activation of microglial cells.</p>","PeriodicalId":22415,"journal":{"name":"The Cerebellum","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5336519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79300490","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}
Pub Date : 2017-04-01DOI: 10.1007/s12311-016-0826-5
Sheng-Han Kuo, Jie Wang, William J Tate, Ming-Kai Pan, Geoffrey C Kelly, Jesus Gutierrez, Etty P Cortes, Jean-Paul G Vonsattel, Elan D Louis, Phyllis L Faust
Early onset and late onset essential tremor (ET) cases differ in several respects. Whether they differ with respect to cerebellar pathologic changes remains to be determined. We quantified a broad range of postmortem features (Purkinje cell (PC) counts, PC axonal torpedoes and associated axonal changes, heterotopic PCs, and hairy basket ratings) in 30 ET cases with age of tremor onset <50 years, 30 ET cases with age of tremor onset ≥50 years, and 30 controls (total n = 90). We also used two alternative age of onset cut-points (<40 vs. ≥40 years, and <60 vs. ≥60 years) to define early onset vs. late onset ET. We found that ET cases with tremor onset <50 years and tremor onset ≥50 years had similar PC counts (8.78 ± 1.70 vs. 8.86 ± 1.24, p = 0.839), PC axonal torpedo counts (17.87 ± 18.27 [median =13.00] vs. 12.90 ± 10.60 [median =9.0], p = 0.486) and associated axonal pathology (all p values >0.05), heterotopic PC counts (9.90 ± 11.55 [median =6.00] vs. 5.40 ± 5.10 [median =3.50], p = 0.092), and hairy basket ratings (1.95 ± 0.62 [median =2.00] vs. 2.05 ± 0.92 [median =2.00], p = 0.314). When using the age of onset cut-points of 40 or 60 years, results were similar. Early onset and late onset ET cases share similar cerebellar postmortem features. These data do not support the notion that these age-of-onset related forms of ET represent distinct clinical-pathological entities.
早发性和晚发性本质性震颤（ET）病例在多个方面存在差异。它们在小脑病理变化方面是否存在差异仍有待确定。我们对 30 例 ET 病例的各种尸检特征（普肯野细胞（PC）计数、PC 轴突鱼雷和相关轴突变化、异位 PC 和毛篮评级）进行了量化，其中震颤发病年龄为 0.当使用发病年龄切分法时，30 例 ET 病例的震颤发生率（0.05±0.05）、异位 PC 计数（9.90±11.55 [中位数 =6.00]对 5.40±5.10 [中位数 =3.50]，P =0.092）和毛篮评分（1.95±0.62 [中位数 =2.00]对 2.05±0.92 [中位数 =2.00]，P =0.314）均低于中位数（0.05±0.05[中位数 =2.00]）。以 40 岁或 60 岁为发病年龄切点，结果相似。早发和晚发ET病例具有相似的小脑死后特征。这些数据并不支持这些发病年龄相关的ET代表不同临床病理实体的观点。
{"title":"Cerebellar Pathology in Early Onset and Late Onset Essential Tremor.","authors":"Sheng-Han Kuo, Jie Wang, William J Tate, Ming-Kai Pan, Geoffrey C Kelly, Jesus Gutierrez, Etty P Cortes, Jean-Paul G Vonsattel, Elan D Louis, Phyllis L Faust","doi":"10.1007/s12311-016-0826-5","DOIUrl":"10.1007/s12311-016-0826-5","url":null,"abstract":"<p><p>Early onset and late onset essential tremor (ET) cases differ in several respects. Whether they differ with respect to cerebellar pathologic changes remains to be determined. We quantified a broad range of postmortem features (Purkinje cell (PC) counts, PC axonal torpedoes and associated axonal changes, heterotopic PCs, and hairy basket ratings) in 30 ET cases with age of tremor onset <50 years, 30 ET cases with age of tremor onset ≥50 years, and 30 controls (total n = 90). We also used two alternative age of onset cut-points (<40 vs. ≥40 years, and <60 vs. ≥60 years) to define early onset vs. late onset ET. We found that ET cases with tremor onset <50 years and tremor onset ≥50 years had similar PC counts (8.78 ± 1.70 vs. 8.86 ± 1.24, p = 0.839), PC axonal torpedo counts (17.87 ± 18.27 [median =13.00] vs. 12.90 ± 10.60 [median =9.0], p = 0.486) and associated axonal pathology (all p values >0.05), heterotopic PC counts (9.90 ± 11.55 [median =6.00] vs. 5.40 ± 5.10 [median =3.50], p = 0.092), and hairy basket ratings (1.95 ± 0.62 [median =2.00] vs. 2.05 ± 0.92 [median =2.00], p = 0.314). When using the age of onset cut-points of 40 or 60 years, results were similar. Early onset and late onset ET cases share similar cerebellar postmortem features. These data do not support the notion that these age-of-onset related forms of ET represent distinct clinical-pathological entities.</p>","PeriodicalId":22415,"journal":{"name":"The Cerebellum","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5336493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77797442","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}
Pub Date : 2017-02-21DOI: 10.1007/s12311-017-0847-8
A. Shaikh, D. Solomon
{"title":"Effects of Sustained Otolith-Only Stimulation on Post-Rotational Nystagmus","authors":"A. Shaikh, D. Solomon","doi":"10.1007/s12311-017-0847-8","DOIUrl":"https://doi.org/10.1007/s12311-017-0847-8","url":null,"abstract":"","PeriodicalId":22415,"journal":{"name":"The Cerebellum","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77738880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-02-18DOI: 10.1007/s12311-017-0850-0
A. Cacciola, D. Milardi, P. Livrea, P. Flace, G. Anastasi, A. Quartarone
{"title":"The Known and Missing Links Between the Cerebellum, Basal Ganglia, and Cerebral Cortex","authors":"A. Cacciola, D. Milardi, P. Livrea, P. Flace, G. Anastasi, A. Quartarone","doi":"10.1007/s12311-017-0850-0","DOIUrl":"https://doi.org/10.1007/s12311-017-0850-0","url":null,"abstract":"","PeriodicalId":22415,"journal":{"name":"The Cerebellum","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75522682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-02-02DOI: 10.1007/s12311-017-0845-x
MinlanYuan, Y. Meng, Yan Zhang, Xiao-jing Nie, Zhengjia Ren, Hongru Zhu, Yuchen Li, S. Lui, S. Lui, Q. Gong, Changjian Qiu, Wei Zhang
{"title":"Cerebellar Neural Circuits Involving Executive Control Network Predict Response to Group Cognitive Behavior Therapy in Social Anxiety Disorder","authors":"MinlanYuan, Y. Meng, Yan Zhang, Xiao-jing Nie, Zhengjia Ren, Hongru Zhu, Yuchen Li, S. Lui, S. Lui, Q. Gong, Changjian Qiu, Wei Zhang","doi":"10.1007/s12311-017-0845-x","DOIUrl":"https://doi.org/10.1007/s12311-017-0845-x","url":null,"abstract":"","PeriodicalId":22415,"journal":{"name":"The Cerebellum","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74924503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-02-01DOI: 10.1007/s12311-017-0846-9
J. Mitsui, Ken Koguchi, T. Momose, Miwako Takahashi, T. Matsukawa, T. Yasuda, Shin‐ichi Tokushige, H. Ishiura, J. Goto, S. Nakazaki, Tomoyoshi Kondo, Hidefumi Ito, Yorihiro Yamamoto, S. Tsuji
{"title":"Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations","authors":"J. Mitsui, Ken Koguchi, T. Momose, Miwako Takahashi, T. Matsukawa, T. Yasuda, Shin‐ichi Tokushige, H. Ishiura, J. Goto, S. Nakazaki, Tomoyoshi Kondo, Hidefumi Ito, Yorihiro Yamamoto, S. Tsuji","doi":"10.1007/s12311-017-0846-9","DOIUrl":"https://doi.org/10.1007/s12311-017-0846-9","url":null,"abstract":"","PeriodicalId":22415,"journal":{"name":"The Cerebellum","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78133470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-01-27DOI: 10.1007/s12311-017-0844-y
A. Shaikh, D. Straumann, A. Palla
{"title":"Motion Illusion—Evidence towards Human Vestibulo-Thalamic Projections","authors":"A. Shaikh, D. Straumann, A. Palla","doi":"10.1007/s12311-017-0844-y","DOIUrl":"https://doi.org/10.1007/s12311-017-0844-y","url":null,"abstract":"","PeriodicalId":22415,"journal":{"name":"The Cerebellum","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77001515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-01-19DOI: 10.1007/s12311-016-0842-5
Yuri Kanamaru, Jianxue Li, N. Stewart, R. Sidman, E. Takahashi
{"title":"Cerebellar Pathways in Mouse Model of Purkinje Cell Degeneration Detected by High-Angular Resolution Diffusion Imaging Tractography","authors":"Yuri Kanamaru, Jianxue Li, N. Stewart, R. Sidman, E. Takahashi","doi":"10.1007/s12311-016-0842-5","DOIUrl":"https://doi.org/10.1007/s12311-016-0842-5","url":null,"abstract":"","PeriodicalId":22415,"journal":{"name":"The Cerebellum","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76912564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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