Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing [0.03%]
spinocerebellar萎缩症28：德国家系中具有年轻发病年龄、病程进展缓慢和突发性眼肌麻痹的AFG3L2新突变
Christine Zühlke,Barbara Mikat,Dagmar Timmann et al.
Christine Zühlke et al.
Background: Spinocerebellar ataxia type 28 (SCA28) is related to mutations of the ATPase family gene 3-like 2 gene (AFG3L2). To date, 13 private missense mutations have been identified in families of French, Italian, and ...
Michael Bielawski,Helen Bondurant
Michael Bielawski
Background: There is growing evidence that the cerebellum serves an important role in controlling affect and cognition, and its pathology has been implicated in several psychiatric disorders. Furthermore, the brainstem's ...
Case Reports
Cerebellum & ataxias. 2015 Dec 9:2:17. DOI:10.1186/s40673-015-0037-8 2015
David Bargiela,Priya Shanmugarajah,Christine Lo et al.
David Bargiela et al.
Background: 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 g...
Implied functional crossed cerebello-cerebral diaschisis and interhemispheric compensation during hand grasping more than 20 years after unilateral cerebellar injury in early childhood [0.03%]
早年儿童期半边小脑损伤成人后手握持功能的交叉性大脑小脑弥散和半球间代偿
Takayuki Nakahachi,Ryouhei Ishii,Leonides Canuet et al.
Takayuki Nakahachi et al.
Background: Crossed cerebello-cerebral diaschisis (CCCD) conventionally refers to decreased resting cerebral activity caused by injury to the contralateral cerebellum. We investigated whether functional activation of a co...
Case Reports
Cerebellum & ataxias. 2015 Nov 21:2:15. DOI:10.1186/s40673-015-0032-0 2015
Hiroshi Mitoma,Marios Hadjivassiliou,Jérôme Honnorat
Hiroshi Mitoma
Immune-mediated cerebellar ataxias include gluten ataxia, paraneoplastic cerebellar degeneration, GAD antibody associated cerebellar ataxia, and Hashimoto's encephalopathy. Despite the identification of an increasing number of immune-mediat...
Overlooked Holmes' clinical signs: reevaluation by recent physiological findings [0.03%]
略论福尔摩斯的临床体征：近期生理学进展的再评价
Takahiro Ishikawa,Shinji Kakei,Hiroshi Mitoma
Takahiro Ishikawa
Holmes proposed not only the term ataxia, but also opposite clinical signs related to muscle recruitment, which have escaped clinical attention; (1) asthenia, representing delay in initiating muscle contraction and slowness in attaining exe...
Atrial natriuretic peptide (ANP) and oxytocin-expression in the adult rat and mouse cerebellum [0.03%]
成人鼠和小鼠小脑中心钠肽（ANP）和催产素的表达式
Alessio Lipari,Elvira Farina,Aldo Gerbino et al.
Alessio Lipari et al.
Background: Many studies are in the literature on the ANP and oxytocin-presence in the brain, but very few studies with controversial results are reported on the presence of these peptides in the cerebellum. This immunohi...
How music training enhances working memory: a cerebrocerebellar blending mechanism that can lead equally to scientific discovery and therapeutic efficacy in neurological disorders [0.03%]
音乐训练如何增强工作记忆：一个脑小脑融合机制，可促进科学发现并提高神经障碍疾病的治疗效果
Larry Vandervert
Larry Vandervert
Background: Following in the vein of studies that concluded that music training resulted in plastic changes in Einstein's cerebral cortex, controlled research has shown that music training (1) enhances central executive a...
Marinella Coco,Vincenzo Perciavalle
Marinella Coco
Until the end of 18th century, the role of the cerebellum remained obscure. The turning point occurred when Luigi Galvani showed that muscle contraction is due to electricity and Alessandro Volta produced the battery, an apparatus based on ...
Clinical assessment of standing and gait in ataxic patients using a triaxial accelerometer [0.03%]
临床评估阵发性协调障碍患者站立和行走的状况使用三轴加速度计测量
Akira Matsushima,Kunihiro Yoshida,Hirokazu Genno et al.
Akira Matsushima et al.
Background: The aim of this study was to investigate the usefulness of a triaxial accelerometer for the clinical assessment of standing and gait impairment in ataxic patients quantitatively. Fifty-one patients with spinoc...