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Cerebellum and Ataxias最新文献

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Erratum to: Effects of somatosensory stimulation on corticomotor excitability in patients with unilateral cerebellar infarcts and healthy subjects - preliminary results. 体感刺激对单侧小脑梗死患者和健康受试者皮质运动兴奋性的影响——初步结果。
Q3 Medicine
Cerebellum and Ataxias
Pub Date : 2016-04-25 eCollection Date: 2016-01-01 DOI: 10.1186/s40673-016-0048-0
Suzete Nascimento Farias da Guarda, Adriana Bastos Conforto

[This corrects the article DOI: 10.1186/s40673-014-0016-5.].

[这更正了文章DOI: 10.1186/s40673-014-0016-5]。
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引用次数: 1
Acetyl-DL-leucine improves gait variability in patients with cerebellar ataxia-a case series. 乙酰- dl -亮氨酸改善小脑性共济失调患者的步态变异性-一个病例系列。
Q3 Medicine
Cerebellum and Ataxias
Pub Date : 2016-04-12 eCollection Date: 2016-01-01 DOI: 10.1186/s40673-016-0046-2
Roman Schniepp, Michael Strupp, Max Wuehr, Klaus Jahn, Marianne Dieterich, Thomas Brandt, Katharina Feil

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.

乙酰- dl -亮氨酸是一种被观察到改善散发性和遗传性共济失调患者的共济失调症状的修饰氨基酸。在这里，我们研究了乙酰- dl -亮氨酸治疗对小脑性共济失调患者行走稳定性的影响(10倍SAOA, 2倍MSA-C, 2倍ADA, 1倍CACNA-1A突变，2倍SCA 2, 1倍SCA 1)。3-3-4)显著改善了18例患者中14例的步幅时间变异系数。此外，主观动态评分(FES-I和ABC)和SARA评分也在治疗后得到改善。需要进一步的前瞻性研究来支持这些III级观察性发现。
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引用次数: 34
Experimental neurotransplantation treatment for hereditary cerebellar ataxias 实验性神经移植治疗遗传性小脑共济失调
Q3 Medicine
Cerebellum and Ataxias
Pub Date : 2016-04-04 DOI: 10.1186/s40673-016-0045-3
J. Cendelin
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引用次数: 6
A TMS investigation on the role of the cerebellum in pitch and timbre discrimination 对小脑在音高和音色辨别中的作用的TMS研究
Q3 Medicine
Cerebellum and Ataxias
Pub Date : 2016-03-02 DOI: 10.1186/s40673-016-0044-4
C. Lega, T. Vecchi, E. D’Angelo, Z. Cattaneo
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引用次数: 9
Timing control of gait: a study of essential tremor patients vs. age-matched controls 步态的时间控制:特发性震颤患者与年龄匹配对照的研究
Q3 Medicine
Cerebellum and Ataxias
Pub Date : 2016-03-02 DOI: 10.1186/s40673-016-0043-5
A. Rao, E. Louis
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引用次数: 7
Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit 参考单位随访开始时脊髓小脑性共济失调3型的运动体征模式
Q3 Medicine
Cerebellum and Ataxias
Pub Date : 2016-02-23 DOI: 10.1186/s40673-016-0042-6
I. Pulido-Valdeolivas, D. Gómez-Andrés, I. Sanz‐Gallego, E. Rausell, J. Arpa
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引用次数: 7
Benign hereditary chorea, not only chorea: a family case presentation 良性遗传性舞蹈病，不只是舞蹈病:一个家庭病例介绍
Q3 Medicine
Cerebellum and Ataxias
Pub Date : 2016-02-02 DOI: 10.1186/s40673-016-0041-7
J. Koht, Sven Olav Løstegaard, I. Wedding, M. Vidailhet, M. Louha, C. Tallaksen
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引用次数: 3
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia 俄罗斯轻度脊髓小脑性共济失调家族ITPR1基因p.Val1553Met突变
Q3 Medicine
Cerebellum and Ataxias
Pub Date : 2016-01-13 DOI: 10.1186/s40673-016-0040-8
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}
引用次数: 24
Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement 临床和神经影像学特征对新生儿小脑受累神经疾病的诊断指导
Q3 Medicine
Cerebellum and Ataxias
Pub Date : 2016-01-13 DOI: 10.1186/s40673-016-0039-1
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}
引用次数: 21
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing 脊髓小脑性共济失调28:一种新的AFG3L2突变，发生在一个德国家庭，发病年轻，进展缓慢，跳跃性减慢
Q3 Medicine
Cerebellum and Ataxias
Pub Date : 2015-12-01 DOI: 10.1186/s40673-015-0038-7
C. Zühlke, B. Mikat, D. Timmann, D. Wieczorek, G. Gillessen‐Kaesbach, K. Bürk
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引用次数: 22
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