Cerebellum and AtaxiasPub Date : 2016-04-25eCollection Date: 2016-01-01DOI: 10.1186/s40673-016-0048-0
Suzete Nascimento Farias da Guarda, Adriana Bastos Conforto
{"title":"Erratum to: Effects of somatosensory stimulation on corticomotor excitability in patients with unilateral cerebellar infarcts and healthy subjects - preliminary results.","authors":"Suzete Nascimento Farias da Guarda, Adriana Bastos Conforto","doi":"10.1186/s40673-016-0048-0","DOIUrl":"https://doi.org/10.1186/s40673-016-0048-0","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1186/s40673-014-0016-5.]. </p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"3 ","pages":"11"},"PeriodicalIF":0.0,"publicationDate":"2016-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-016-0048-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34334146","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}
Cerebellum and AtaxiasPub Date : 2016-04-12eCollection Date: 2016-01-01DOI: 10.1186/s40673-016-0046-2
Roman Schniepp, Michael Strupp, Max Wuehr, Klaus Jahn, Marianne Dieterich, Thomas Brandt, Katharina Feil
{"title":"Acetyl-DL-leucine improves gait variability in patients with cerebellar ataxia-a case series.","authors":"Roman Schniepp, Michael Strupp, Max Wuehr, Klaus Jahn, Marianne Dieterich, Thomas Brandt, Katharina Feil","doi":"10.1186/s40673-016-0046-2","DOIUrl":"https://doi.org/10.1186/s40673-016-0046-2","url":null,"abstract":"<p><p>Acetyl-DL-leucine is a modified amino acid that was observed to improve ataxic symptoms in patients with sporadic and hereditary forms of ataxia. Here, we investigated the effect of the treatment with Acetyl-DL-leucine on the walking stability of patients with cerebellar ataxia (10x SAOA, 2x MSA-C, 2x ADA, 1x CACNA-1A mutation, 2x SCA 2, 1x SCA 1). Treatment with Acetyl-DL-leucine (500 mg; 3-3-4) significantly improved the coefficient of variation of stride time in 14 out of 18 patients. Moreover, subjective ambulatory scores (FES-I and ABC) and the SARA scores were also improved under treatment. Further prospective studies are necessary to support these class III observational findings. </p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"3 ","pages":"8"},"PeriodicalIF":0.0,"publicationDate":"2016-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-016-0046-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34398194","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":"A TMS investigation on the role of the cerebellum in pitch and timbre discrimination","authors":"C. Lega, T. Vecchi, E. D’Angelo, Z. Cattaneo","doi":"10.1186/s40673-016-0044-4","DOIUrl":"https://doi.org/10.1186/s40673-016-0044-4","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-016-0044-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65740705","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":"Timing control of gait: a study of essential tremor patients vs. age-matched controls","authors":"A. Rao, E. Louis","doi":"10.1186/s40673-016-0043-5","DOIUrl":"https://doi.org/10.1186/s40673-016-0043-5","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-016-0043-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65741167","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}
I. Pulido-Valdeolivas, D. Gómez-Andrés, I. Sanz‐Gallego, E. Rausell, J. Arpa
{"title":"Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit","authors":"I. Pulido-Valdeolivas, D. Gómez-Andrés, I. Sanz‐Gallego, E. Rausell, J. Arpa","doi":"10.1186/s40673-016-0042-6","DOIUrl":"https://doi.org/10.1186/s40673-016-0042-6","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-016-0042-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65741144","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}
J. Koht, Sven Olav Løstegaard, I. Wedding, M. Vidailhet, M. Louha, C. Tallaksen
{"title":"Benign hereditary chorea, not only chorea: a family case presentation","authors":"J. Koht, Sven Olav Løstegaard, I. Wedding, M. Vidailhet, M. Louha, C. Tallaksen","doi":"10.1186/s40673-016-0041-7","DOIUrl":"https://doi.org/10.1186/s40673-016-0041-7","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-016-0041-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65741116","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}
M. Shadrina, M. V. Shulskaya, S. Klyushnikov, T. Nikopensius, M. Nelis, P. Kivistik, A. Komar, S. Limborska, S. Illarioshkin, P. Slominsky
{"title":"ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia","authors":"M. Shadrina, M. V. Shulskaya, S. Klyushnikov, T. Nikopensius, M. Nelis, P. Kivistik, A. Komar, S. Limborska, S. Illarioshkin, P. Slominsky","doi":"10.1186/s40673-016-0040-8","DOIUrl":"https://doi.org/10.1186/s40673-016-0040-8","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-016-0040-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65740994","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}
J. L. Klein, M. Lemmon, F. Northington, E. Boltshauser, T. Huisman, A. Poretti
{"title":"Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement","authors":"J. L. Klein, M. Lemmon, F. Northington, E. Boltshauser, T. Huisman, A. Poretti","doi":"10.1186/s40673-016-0039-1","DOIUrl":"https://doi.org/10.1186/s40673-016-0039-1","url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-016-0039-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65740945","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}
Cerebellum and AtaxiasPub Date : 2015-12-04eCollection Date: 2015-01-01DOI: 10.1186/s40673-015-0035-x
David Bargiela, Priya Shanmugarajah, Christine Lo, Emma L Blakely, Robert W Taylor, Rita Horvath, Stephen Wharton, Patrick F Chinnery, Marios Hadjivassiliou
{"title":"Mitochondrial pathology in progressive cerebellar ataxia.","authors":"David Bargiela, Priya Shanmugarajah, Christine Lo, Emma L Blakely, Robert W Taylor, Rita Horvath, Stephen Wharton, Patrick F Chinnery, Marios Hadjivassiliou","doi":"10.1186/s40673-015-0035-x","DOIUrl":"10.1186/s40673-015-0035-x","url":null,"abstract":"<p><strong>Background: </strong>Mitochondrial disease can manifest as multi-organ disorder, often with neurological dysfunction. Cerebellar ataxia in isolation or in combination with other features can result from mitochondrial disease yet genetic testing using blood DNA is not sufficient to exclude this as a cause of ataxia. Muscle biopsy is a useful diagnostic tool for patients with ataxia suspected of mitochondrial disease. Our aim was to determine specific patient selection criteria for muscle biopsy to see how frequent mitochondrial mutations are responsible for progressive ataxia. We performed a two centre retrospective review of patients with unexplained progressive ataxia who underwent muscle biopsy for suspected mitochondrial disease between 2004 and 2014 (Sheffield and Newcastle Ataxia Centres).</p><p><strong>Results: </strong>A total of 126 patients were identified; 26 assessed in Newcastle and 100 in Sheffield. Twenty-four patients had pure ataxia and 102 had ataxia with additional features. The total number of patients with histologically suspected and/or genetically confirmed mitochondrial disease was 29/126 (23 %).</p><p><strong>Conclusions: </strong>A large proportion of patients (23 %) with progressive ataxia who underwent muscle biopsy were found to have features of mitochondrial dysfunction, with molecular confirmation in some. Muscle biopsy is a helpful diagnostic tool for mitochondrial disease in patients with progressive ataxia.</p>","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"2 1","pages":"16"},"PeriodicalIF":0.0,"publicationDate":"2015-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670505/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65740811","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}