Cerebellum and Ataxias最新文献

{"title":"Stratification of disease progression in a broad spectrum of degenerative cerebellar ataxias with a clustering method using MRI-based atrophy rates of brain structures.","authors":"Rie Sasaki,&nbsp;Futaba Maki,&nbsp;Daisuke Hara,&nbsp;Shigeaki Tanaka,&nbsp;Yasuhiro Hasegawa","doi":"10.1186/s40673-017-0068-4","DOIUrl":"https://doi.org/10.1186/s40673-017-0068-4","url":null,"abstract":"<p><strong>Background: </strong>The rate of disease progression differs among patients with degenerative cerebellar ataxia. The uncertain natural course in individual patients hinders clinical trials of promising treatments. In this study, we analyzed atrophy changes in brain structures with cluster analysis to find sub-groups of patients with homogenous symptom progression in a broad spectrum of degenerative cerebellar ataxias.</p><p><strong>Methods: </strong>We examined 48 patients including 21 cases of spinocerebellar ataxia (SCA), 17 cases of the cerebellar type of multiple system atrophy (MSA-C), and 10 cases of cortical cerebellar ataxia (CCA). In all patients, at least two sets of evaluations including magnetic resonance imaging (MRI) and the International Cooperative Ataxia Rating Scale (ICARS) scoring were performed. The median number (min-max) of follow-up studies in each patient was three (2-6), and the mean follow-up period was 3.1 ± 1.6 years. The area of the corpus callosum on midsagittal images and the cerebellar volume were measured using MRI, and these values were divided by the cranial antero-posterior diameter of each patient to correct for individual head size differences as an area index (Adx) and a volume index (Vdx), respectively. The annual changes in Adx, Vdx, and ICARS score were calculated in each patient, and atrophy patterns in patients were categorized with cluster analysis.</p><p><strong>Results: </strong>The annual atrophy rates for the corpus callosum (Adx) and cerebellum (Vdx) and symptom progression differed significantly by subtype of cerebellar ataxia (<i>p</i> = 0.026, 0.019, and 0.021, respectively). However, neither the annual atrophy rate of Adx nor Vdx was significantly correlated with the annual increase in the ICARS score. When the patients were categorized into three clusters based on the annual changes in Adx and Vdx, the annual increase in the ICARS score was significantly different among clusters (2.9 ± 1.7/year in Cluster 1, 4.8 ± 3.2/year in Cluster 2, and 8.7 ± 6.1/year in Cluster 3; <i>p</i> = 0.014).</p><p><strong>Conclusions: </strong>The annual increase in the ICARS score can be stratified by cluster analysis based on the atrophy rates of the corpus callosum and cerebellum. Further studies are warranted to explore whether these simple MRI methods could be used for random allocation of a broad spectrum of patients with degenerative cerebellar ataxia in clinical trials.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-017-0068-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35145267","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":"JC virus granule cell neuronopathy onset two months after chemotherapy for low-grade lymphoma.","authors":"Kathryn B Holroyd,&nbsp;Elias S Sotirchos,&nbsp;Scott R DeBoer,&nbsp;Kelly A Mills,&nbsp;Scott D Newsome","doi":"10.1186/s40673-017-0066-6","DOIUrl":"https://doi.org/10.1186/s40673-017-0066-6","url":null,"abstract":"<p><strong>Background: </strong>Granule cell neuronopathy (GCN) is a rare disease caused by the JC virus, leading to degeneration of cerebellar granule cell neurons. Primarily described in patients with AIDS, it has also been diagnosed in patients with lymphoproliferative diseases and after long-term treatment with immune-suppressing medications such as natalizumab.</p><p><strong>Case presentation: </strong>A 69 year old woman presented with progressive ataxia which began 2 months after initiation of treatment for follicular low-grade B cell lymphoma with rituximab/bendamustine, and progressed for 2 years prior to admission. Extensive prior evaluation included MRI that showed atrophy of the cerebellum but normal CSF analysis and serum studies. Neurologic exam on admission was notable for severe appendicular ataxia and fatigable end-gaze direction-changing horizontal nystagmus. FDG-PET/CT scan was unremarkable and repeat lumbar puncture revealed 2 WBCs/mm³, 148 RBCs/mm³, glucose 70 mg/dL, protein 37.7 mg/dL and negative flow cytometry/cytopathology. Standard CSF JC virus PCR testing was negative, but ultrasensitive TaqMan real-time JC virus PCR testing was positive, consistent with JC virus-related GCN.</p><p><strong>Conclusions: </strong>Because of the diagnostic challenges in identifying GCN, a high threshold of suspicion should be maintained in patients with an immune-suppressing condition such as lymphoma or on immune-suppressing agents such as rituximab, even shortly after initiation of therapy.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-017-0066-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35120545","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":"Neural correlates of ataxia severity in spinocerebellar ataxia type 3/Machado-Joseph disease.","authors":"Carlos R Hernandez-Castillo,&nbsp;Rosalinda Diaz,&nbsp;Aurelio Campos-Romo,&nbsp;Juan Fernandez-Ruiz","doi":"10.1186/s40673-017-0065-7","DOIUrl":"https://doi.org/10.1186/s40673-017-0065-7","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant inherited neurodegenerative disorder. Several post-mortem and imaging studies have shown cerebellar and brainstem atrophy. A number of studies have used volumetric regional information to investigate the relationship between neurodegeneration and the ataxia severity. However, regional analysis can obscure the specific location in which the degenerative process is affecting the brain tissue, which can be crucial for the development of new target treatments for this disease. Here we explored the relationship between the gray matter degeneration and the ataxia severity on a cohort of SCA3 patients using a voxel-wise approach.</p><p><strong>Methods: </strong>Seventeen patients with molecular diagnose of SCA3 and 17 matched healthy controls participated in this study. Magnetic resonance imaging (MRI) brain images were acquired and voxel-based morphometry was used to obtain the grey matter volume of each participant. Ataxia severity in the patient group was evaluated using the scale for the assessment and rating of ataxia (SARA).</p><p><strong>Results: </strong>Group comparison revealed significant atrophy in SCA3 including bilateral cerebellum, vermis, brainstem, and occipital cortex. Significant negative correlations between gray matter volume and SARA scores were found in the cerebellum and the cingulate gyrus.</p><p><strong>Conclusions: </strong>These findings highlight the specific contribution of the cerebellum and the cingulate cortex to the ataxia deficits among the other regions showing neurodegeneration in SCA3 patients.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-017-0065-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35070120","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":"Cerebellum: An explanation for dystonia?","authors":"Matteo Bologna,&nbsp;Alfredo Berardelli","doi":"10.1186/s40673-017-0064-8","DOIUrl":"https://doi.org/10.1186/s40673-017-0064-8","url":null,"abstract":"<p><p>Dystonia is a movement disorder that is characterized by involuntary muscle contractions, abnormal movements and postures, as well as by non-motor symptoms, and is due to abnormalities in different brain areas. In this article, we focus on the growing number of experimental studies aimed at explaining the pathophysiological role of the cerebellum in dystonia. Lastly, we highlight gaps in current knowledge and issues that future research studies should focus on as well as some of the potential applications of this research avenue. Clarifying the pathophysiological role of cerebellum in dystonia is an important concern given the increasing availability of invasive and non-invasive stimulation techniques and their potential therapeutic role in this condition.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-017-0064-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35004618","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":"An unusual cause of fatal rapid-onset ataxia plus syndrome.","authors":"Ivan Kmezic,&nbsp;Jan Weinberg,&nbsp;Dan Hauzenberger,&nbsp;Farouk Hashim,&nbsp;Evangelia Kollia,&nbsp;Monika Klimkowska,&nbsp;Inger Nennesmo,&nbsp;Martin Paucar","doi":"10.1186/s40673-017-0063-9","DOIUrl":"https://doi.org/10.1186/s40673-017-0063-9","url":null,"abstract":"<p><strong>Background: </strong>Progressive multifocal leukoencephalopathy (PML) is a demyelinating disorder of the central nervous system caused by reactivation of the JC-virus and is in most cases associated with underlying immunosuppression. Acquired immune deficiency syndrome (AIDS) and hematological malignancies are well-known predisposing factors for PML. However, in the past ten years, various pharmacological agents have been associated with increased risk of PML. Based on the phenomenology PML can be divided into the cerebral form and the rare cerebellar form.</p><p><strong>Case presentation: </strong>Here we describe a man affected by polycythemia vera (PCV) that was treated with hydroxyurea (HU) and developed PML. The initially PML presentation included ataxia as one of the main features. Brain MRI displayed widespread supratentorial and infratentorial lesions. Immunological analysis revealed absence of reactivity to a wide range of antigens. The course of disease was rapidly progressive with fatal outcome - autopsy ruled out leukemic transformation.</p><p><strong>Conclusion: </strong>The occurrence of PML in PCV patients is very rare and has been reported only once. Movement disorders, such as ataxia, are also less frequent. In the present case the PML was likely multifactorial.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-017-0063-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34938607","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":"Friedreich Ataxia: current status and future prospects.","authors":"Katrin Bürk","doi":"10.1186/s40673-017-0062-x","DOIUrl":"https://doi.org/10.1186/s40673-017-0062-x","url":null,"abstract":"<p><p>Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alterations, frataxin expression is significantly reduced. Frataxin is a mitochondrial protein. Its deficiency leads to mitochondrial iron overload, defective energy supply and generation of reactive oxygen species. This review gives an overview over clinical and genetic aspects of FA and discusses current concepts of frataxin biogenesis and function as well as new therapeutic strategies.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-017-0062-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34911790","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":"Systematic review of autosomal recessive ataxias and proposal for a classification.","authors":"Marie Beaudin,&nbsp;Christopher J Klein,&nbsp;Guy A Rouleau,&nbsp;Nicolas Dupré","doi":"10.1186/s40673-017-0061-y","DOIUrl":"https://doi.org/10.1186/s40673-017-0061-y","url":null,"abstract":"<p><strong>Background: </strong>The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literature to examine all recessive ataxias in order to propose a new classification and properly circumscribe this field as new technologies are emerging for comprehensive targeted gene testing.</p><p><strong>Methods: </strong>We searched Pubmed and Embase to identify original articles on recessive forms of ataxia in humans for which a causative gene had been identified. Reference lists and public databases, including OMIM and GeneReviews, were also reviewed. We evaluated the clinical descriptions to determine if ataxia was a core feature of the phenotype and assessed the available evidence on the genotype-phenotype association. Included disorders were classified as primary recessive ataxias, as other complex movement or multisystem disorders with prominent ataxia, or as disorders that may occasionally present with ataxia.</p><p><strong>Results: </strong>After removal of duplicates, 2354 references were reviewed and assessed for inclusion. A total of 130 articles were completely reviewed and included in this qualitative analysis. The proposed new list of autosomal recessive ataxias includes 45 gene-defined disorders for which ataxia is a core presenting feature. We propose a clinical algorithm based on the associated symptoms.</p><p><strong>Conclusion: </strong>We present a new classification for autosomal recessive ataxias that brings awareness to their complex phenotypes while providing a unified categorization of this group of disorders. This review should assist in the development of a consensus nomenclature useful in both clinical and research applications.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-017-0061-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34776256","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":"Apraxia of speech and cerebellar mutism syndrome: a case report","authors":"E. Witte, I. Wilssens, D. Surgeloose, G. Dua, M. Moens, J. Verhoeven, M. Manto, P. Mariën","doi":"10.1186/s40673-016-0059-x","DOIUrl":"https://doi.org/10.1186/s40673-016-0059-x","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-016-0059-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49422191","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":"Cerebellar ataxia and sensory ganglionopathy associated with light-chain myeloma","authors":"P. Zis, D. G. Rao, B. Wagner, Lucinda Nicholson-Goult, N. Hoggard, M. Hadjivassiliou","doi":"10.1186/s40673-016-0060-4","DOIUrl":"https://doi.org/10.1186/s40673-016-0060-4","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-016-0060-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42080102","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":"Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1","authors":"Cara Kraus-Perrotta, Sarita Lagalwar","doi":"10.1186/s40673-016-0058-y","DOIUrl":"https://doi.org/10.1186/s40673-016-0058-y","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-016-0058-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65740849","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}