Cerebellum and Ataxias最新文献

{"title":"Spinocerebellar Ataxia type 29 in a family of Māori descent","authors":"Kathie J. Ngo, G. Poke, K. Neas, B. Fogel","doi":"10.1186/s40673-019-0108-3","DOIUrl":"https://doi.org/10.1186/s40673-019-0108-3","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-019-0108-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42322844","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}

{"title":"Comparison of cognitive profiles in spinocerebellar ataxia subtypes: a case series.","authors":"Corey Bolton, Maureen Lacy","doi":"10.1186/s40673-019-0107-4","DOIUrl":"10.1186/s40673-019-0107-4","url":null,"abstract":"<p><strong>Background: </strong>The spinocerebellar ataxias (SCA) are a heterogeneous group of progressive neurodegenerative disorders that are associated with diffuse cerebellar atrophy. While the physical symptoms of this condition have long been studied, more attention has been given to cognitive changes in recent years. We describe a case series of four adults with various genetically-confirmed subtypes of SCA.</p><p><strong>Case presentation: </strong>Patients with SCA types 2, 3, and 6 presented with impaired cognitive profiles consistent with the existing literature while the reported patient with SCA-14 showed notable impairment inconsistent with the only published case controlled study.</p><p><strong>Conclusions: </strong>Comparisons were made between the four patients with a common pattern of slowed processing speed, poor memory retrieval, and reduced mental flexibility. Confrontation naming and consolidation-based memory were intact across all patients. These findings are discussed in light of the relevant literature on cerebellar cognitive affective syndrome.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"6 ","pages":"13"},"PeriodicalIF":0.0,"publicationDate":"2019-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749672/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41215038","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}

{"title":"Nonmotor symptoms in spinocerebellar ataxias (SCAs)","authors":"A. Moro, M. Moscovich, M. Farah, C. Camargo, H. Teive, R. Munhoz","doi":"10.1186/s40673-019-0106-5","DOIUrl":"https://doi.org/10.1186/s40673-019-0106-5","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-019-0106-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47733849","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}

{"title":"Modafinil in the rehabilitation of a patient with post-surgical posterior fossa syndrome: a lesson to be learned?","authors":"E. Molinari, M. Oto, A. Waterston, N. Fullerton","doi":"10.1186/s40673-019-0105-6","DOIUrl":"https://doi.org/10.1186/s40673-019-0105-6","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-019-0105-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43921671","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}

{"title":"Publisher Correction to: Cerebellum & Ataxias, volume 6","authors":"","doi":"10.1186/s40673-019-0104-7","DOIUrl":"https://doi.org/10.1186/s40673-019-0104-7","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-019-0104-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65740965","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}

{"title":"The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C","authors":"Humberto Skott, Cristina Muntean-Firanescu, K. Samuelsson, L. Verrecchia, P. Svenningsson, H. Malmgren, Carmen Cananau, A. Espay, R. Press, G. Solders, M. Paucar","doi":"10.1186/s40673-019-0103-8","DOIUrl":"https://doi.org/10.1186/s40673-019-0103-8","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-019-0103-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47486256","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}

{"title":"Is 1H-MR spectroscopy useful as a diagnostic aid in MSA-C?","authors":"Viren H. Kadodwala, M. Hadjivassiliou, S. Currie, N. Skipper, N. Hoggard","doi":"10.1186/s40673-019-0099-0","DOIUrl":"https://doi.org/10.1186/s40673-019-0099-0","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-019-0099-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41501968","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}

{"title":"The evolution of theory of mind (ToM) within the evolution of cerebellar sequence detection in stone-tool making and language: implications for studies of higher-level cognitive functions in degenerative cerebellar atrophy.","authors":"Larry Vandervert","doi":"10.1186/s40673-019-0101-x","DOIUrl":"10.1186/s40673-019-0101-x","url":null,"abstract":"<p><strong>Introduction: </strong>Within the context of Clausi, Olivito, Lupo, Siciliano, Bozzali and Leggio's (Cell Neurosci 12:510, 2019) insightful study of how prediction of theory of mind (ToM) is compromised in degenerative cerebellar atrophy, this article describes how prediction can also be understood as the cerebro-cerebellar system's capacity to rapidly shift attention to manipulate cause-and-effect relationships embedded in language.</p><p><strong>Method: </strong>The evolution of the capacity of ToM is described within the evolution of stone-tool making, language, and the origin of the phonological loop in verbal working memory. Specifically, it is argued that this evolutionary framework offers a way to get further inside the prediction process by illuminating how sub-vocal speech evolved during stone-tool evolution due to its adaptive refinement of early human ability to manipulate and hold in memory progressively more detailed cause-and-effect relationships in the origin of verbal working memory.</p><p><strong>Conclusion: </strong>The addition of sub-vocal speech/cause-and-effect relationship to the analysis of prediction provides an evolutionary model of the mechanisms of ToM, which, in turn, brings forward additional cerebro-cerebellar mechanisms which can (1) further support Clausi, Olivito, Lupo et al's findings and (2) shed light on additional mechanisms that might further clarify what might be behind cerebellar dysfunction in the construction of ToM. Problems encountered by cerebellar degenerative atrophy patients with the Faux pas test and Advanced ToM task with unexpected events may stem from a combination of an inability (1) of their cerebellar internal models to rapidly switch attention among cause-and-effect elements of the stories and (2) to extend cerebellar internal models to the prediction of the resulting similar but unexpected events. That is, with both (1) and (2) occurring at the same time, alternative meanings of causes and effects might be missed in both automatic and consciously manipulated sub-vocal verbal working memory. A method to measure sub-vocal speech in this context is suggested.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"6 ","pages":"1"},"PeriodicalIF":0.0,"publicationDate":"2019-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-019-0101-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37135783","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}

{"title":"Tremor after long term lithium treatment; is it cortical myoclonus?","authors":"Ptolemaios Georgios Sarrigiannis,&nbsp;Panagiotis Zis,&nbsp;Zoe Charlotte Unwin,&nbsp;Daniel J Blackburn,&nbsp;Nigel Hoggard,&nbsp;Yifan Zhao,&nbsp;Stephen A Billings,&nbsp;Aijaz A Khan,&nbsp;John Yianni,&nbsp;Marios Hadjivassiliou","doi":"10.1186/s40673-019-0100-y","DOIUrl":"https://doi.org/10.1186/s40673-019-0100-y","url":null,"abstract":"<p><strong>Introduction: </strong>Tremor is a common side effect of treatment with lithium. Its characteristics can vary and when less rhythmical, distinction from myoclonus can be difficult.</p><p><strong>Methods: </strong>We identified 8 patients on long-term treatment with lithium that developed upper limb tremor. All patients were assessed clinically and electrophysiologically, with jerk-locked averaging (JLA) and cross-correlation (CC) analysis, and five of them underwent brain MRI examination including spectroscopy (MRS) of the cerebellum.</p><p><strong>Results: </strong>Seven patients (6 female) had action and postural myoclonus and one a regular postural and kinetic tremor that persisted at rest. Mean age at presentation was 58 years (range 42-77) after lengthy exposure to lithium (range 7-40 years). During routine monitoring all patients had lithium levels within the recommended therapeutic range (0.4-1 mmol/l). There was clinical and/or radiological evidence (on cerebellar MRS) of cerebellar dysfunction in 6 patients. JLA and/or CC suggested a cortical generator of the myoclonus in seven patients. All seven were on antidepressants and three additionally on neuroleptics, four of them had gluten sensitivity and two reported alcohol abuse.</p><p><strong>Conclusions: </strong>A synergistic effect of different factors appears to be contributing to the development of cortical myoclonus after chronic exposure to lithium. We hypothesise that the cerebellum is involved in the generation of cortical myoclonus in these cases and factors aetiologically linked to cerebellar pathology like gluten sensitivity and alcohol abuse may play a role in the development of myoclonus. Despite the very limited evidence in the literature, lithium induced cortical myoclonus may not be so rare.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"6 ","pages":"5"},"PeriodicalIF":0.0,"publicationDate":"2019-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-019-0100-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37286830","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}

{"title":"Delayed fenestration of Blake's pouch with or without vermian hypoplasia: fetal MRI at 3 tesla versus 1.5 tesla.","authors":"Thomas Kau,&nbsp;Robert Birnbacher,&nbsp;Peter Schwärzler,&nbsp;Sandra Habernig,&nbsp;Hannes Deutschmann,&nbsp;Eugen Boltshauser","doi":"10.1186/s40673-019-0098-1","DOIUrl":"https://doi.org/10.1186/s40673-019-0098-1","url":null,"abstract":"<p><strong>Background: </strong>Fetal magnetic resonance imaging (MRI), mainly performed at standard field strength, plays a role in the classification of posterior fossa malformations. In the context of early second-trimester screening, upward rotation of the cerebellar vermis per se is usually compatible with a more favorable outcome than Dandy-Walker malformation and profound vermian hypoplasia. Delayed fenestration of Blake's pouch may either mimic vermian hypoplasia by compression or be associated with it in individual cases. To increase specificity, there is a growing interest in the use of high-field MRI which is believed to be safe as long as the specific absorption rate is kept within accepted limits. We aim to illustrate its added value during the second and third trimester.</p><p><strong>Case presentation: </strong>In the first case, fetal MRI at 1.5 Tesla was performed at 21 and 27 weeks' gestation with sonographic follow up postnataly. In the second case, 3 Tesla MR images were acquired at 21 and 34 weeks' gestation as well as in the neonatal period.</p><p><strong>Conclusions: </strong>This pictorial case vignette supports the suggestion that mid-gestational MRI at 3 Tesla has the potential to exclude pronounced vermian hypoplasia with higher confidence than at 1.5 Tesla. However, the discrimination of mild hypoplasia from slight deformation of the cerebellar vermis will likely remain challenging.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"6 ","pages":"4"},"PeriodicalIF":0.0,"publicationDate":"2019-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-019-0098-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37219214","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}