Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report [0.03%]
弗里德赖希共济失调伴严重失明和耳聋1例报告
Joana Damásio,Ana Sardoeira,Maria Araújo et al.
Joana Damásio et al.
Background: Friedreich ataxia is the most frequent hereditary ataxia worldwide. Subclinical visual and auditory involvement has been recognized in these patients, with co-occurrence of severe blindness and deafness being ...
Recognition and management of rapid-onset gluten ataxias: case series [0.03%]
快速起病的 Gluten 臆病的诊断及治疗：系列病例报道
Laurence Newrick,Nigel Hoggard,Marios Hadjivassiliou
Laurence Newrick
Background: Most immune-mediated cerebellar ataxias, including those associated with gluten sensitivity (Gluten Ataxia), tend to present subacutely and usually progress gradually. Acute presentations with rapid progressio...
Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways [0.03%]
FMR1女性前突变X染色体携带者的运动评分和认知功能的关系表明小脑-大脑通路的早期参与
Elsdon Storey,Minh Q Bui,Paige Stimpson et al.
Elsdon Storey et al.
Background: Smaller expansions of CGG trinucleotide repeats in the FMR1 X-linked gene termed 'premutation' lead to a neurodegenerative disorder: Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) in nearly half of aged c...
Anti-Tr/DNER antibody paraneoplastic cerebellar degeneration preceding a very late relapse of Hodgkin Lymphoma after 12 years [0.03%]
抗Tr/DNER抗体介导的副肿瘤小脑退行性病变先于霍奇金淋巴瘤12年后复发的一项研究
Peter Broegger Christensen,Henrik Gregersen,Charlotte Almasi
Peter Broegger Christensen
Background: Paraneoplastic cerebellar degeneration (PCD) is a classic neurological syndrome where the presence of Anti-Tr/DNER antibodies is strongly associated with Hodgkin Lymphoma (HL). Awareness of the syndrome is imp...
The cerebellum-driven social basis of mathematics: implications for one-on-one tutoring of children with mathematics learning disabilities [0.03%]
基于小脑的数学社会基础及其对孩子数学学习障碍的一对一辅导的启示
Larry Vandervert,Kimberly Moe
Larry Vandervert
The purpose of this article is to argue that the patterns of sequence control over kinematics (movements) and dynamics (forces) which evolved in phonological processing in inner speech during the evolution of the social-cognitive capacities...
Glycine receptor antibodies and coeliac disease-related neurological dysfunction [0.03%]
胶质细胞抗体和神经元元相关性肠病神经系统功能失调
Lewis Kass-Iliyya,Ptolemaios G Sarrigiannis,David S Sanders et al.
Lewis Kass-Iliyya et al.
Gluten sensitivity can manifest with a spectrum of neurological dysfunction including ataxia, encephalopathy and neuropathy with or without associated coeliac disease (CD). Gluten sensitivity can also present with central nervous system (CN...
Midbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunction [0.03%]
无编码重复扩增紊乱中的中脑萎缩与帕金森病：31型脊小脑性共济失调伴黑质纹状体多巴胺能功能障碍5例报告
Ryohei Norioka,Keizo Sugaya,Aki Murayama et al.
Ryohei Norioka et al.
Background: Spinocerebellar ataxia type 31 (SCA31) is caused by non-coding pentanucleotide repeat expansions in the BEAN1 gene. Clinically, SCA31 is characterized by late adult-onset, pure cerebellar ataxia. To explore th...
Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin [0.03%]
遗传性横纹肌溶解症在脊小脑萎缩症2型的谱系中对普瑞巴林有反应
Fabian Rossi,Joe Ma,Nina Tsakadze et al.
Fabian Rossi et al.
Background: Spinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. Case presentation: ...
Shakila Meshkat,Parnia Ebrahimi,Abbas Tafakhori et al.
Shakila Meshkat et al.
Background: Regardless of the cause of the superficial siderosis (SS) disease, which is bleeding, the source of bleeding cannot be found in some cases. Ca...
Effect of stem cell treatment on functional recovery of spinocerebellar ataxia: systematic review and meta-analysis [0.03%]
干细胞治疗脊髓小脑共济失调功能恢复的系统评价和meta分析
Pablo Andrei Appelt,Kristin Comella,Luciane Aparecida Pascucci Sande de Souza et al.
Pablo Andrei Appelt et al.
Background: Spinocerebellar ataxia is a hereditary neurodegenerative disease characterized by changes in balance, locomotion and motor coordination. Stem cell therapies are currently being investigated as an alternative t...