The Cerebellar Neuropsychiatric Rating Scale Version 2: Development and Validation [0.03%]
小脑神经精神病评定量表第二版：开发与验证
Louisa P Selvadurai,Anna L Burt,Maureen P Daly et al.
Louisa P Selvadurai et al.
The affective component of the cerebellar cognitive affective / Schmahmann syndrome (CCAS) reflects neuropsychiatric symptoms across five domains: attentional control, emotional control, autism spectrum, psychosis spectrum, and social skill...
Progression of Gait Ataxia in Spinocerebellar Ataxia Type 2: Clinical Utility of Digitally Measured Gait Metrics [0.03%]
遗传性脊髓小脑共济失调2型步态共济障碍的进展：基于数字化检测步态指标的临床应用价值
Roberto Rodríguez-Labrada,Yasmany González-Garcés,Frank J Carrillo-Rodes et al.
Roberto Rodríguez-Labrada et al.
Identifying digital biomarkers for gait ataxia remains a key research priority in spinocerebellar ataxias (SCAs), given their potential to enhance the monitoring of disease progression. This study aimed to evaluate the progression of digita...
VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset [0.03%]
VPS13D相关性疾病：基于发病年龄的新变异体及其表型谱系描述
Renata Silva de Mendonça,Ana Beatriz Arruda Santana,Andreia Braga Mota Azzoni et al.
Renata Silva de Mendonça et al.
The VPS13 family plays a crucial role in mitochondrial stabilization. Biallelic pathogenic variants in VPS13D are classically associated with autosomal recessive ataxia 4 (OMIM #607317), but phenotypic expression is increasingly recognized ...
The Goal Attainment Scale in Spinocerebellar Ataxia Type 3: Exploration of Feasibility and Content Validity [0.03%]
第三脊髓小脑共济失调症状评定量表的可行性与内容效度研究
Kristofoor E Leeuwenberg,Roderick P P W M Maas,Bart P van de Warrenburg
Kristofoor E Leeuwenberg
Daiana Suelen Machado,Cynthia Silveira,Adriana Mendes Vinagre et al.
Daiana Suelen Machado et al.
Friedreich's Ataxia (FRDA) is a progressive condition leading to reduced life expectancy in European/North American cohorts, but little is known about Latin American cohorts. Herein, we assessed FRDA survival data from a large Brazilian ref...
Response to Critical Appraisal of a Reported Case of DAGLA Associated Cerebellitis [0.03%]
DAGLA相关小脑炎一例的评论回应
José Fidel Baizabal-Carvallo,Francesc Graus
José Fidel Baizabal-Carvallo
We report a patient with tremor and cerebellar syndrome for whom screening by immunochemistry and later immunoblot confirmation did not disclose other antibodies, except for anti-diacylglycerol lipase alpha (DAGLA). Other etiologies for a c...
Critical Appraisal of a Reported Case of DAGLA Antibody-Associated Cerebellitis [0.03%]
DAGLA抗体相关小脑炎1例的评价
Christian Messina
Christian Messina
Sadegh Ghaderi,Sana Mohammadi,Minoo Sisakhti et al.
Sadegh Ghaderi et al.
The cerebellar vermis undergoes diverse structural changes with aging, yet region-specific aging patterns remain underexplored. Using Brain Structure Age (BSA), a deep learning biomarker from structural magnetic resonance imaging (MRI), we ...
Pragmatic Feasibility Study Combining Cerebello-spinal Neuromodulation and Exercise in Spinocerebellar Ataxia Type 3: A 20-session Single-arm Protocol [0.03%]
联合小脑脊髓神经调控和运动训练治疗第三型脊小脑萎缩的实用性可行性研究：单组20次干预方案
Anna Fontes Baptista,Thiago Lemos,Yasmin Carvalho Heiderick et al.
Anna Fontes Baptista et al.
Spinocerebellar ataxia type 3 (SCA3) is a hereditary neurodegenerative disorder that progressively impairs balance and gait, without effective pharmacological treatments available. Cerebellar and cerebello-spinal transcranial direct current...
Commentary on the Flocculonodular Lobe as a Cerebellar Resilience Zone: Could Exercise Really be the Best Medicine? [0.03%]
评论小结叶作为脑桥的弹性区：锻炼真的是最好的良药吗？
Lisa Bunn
Lisa Bunn
Recent work presented by Dr Alanna Watt at the International Congress for Ataxia Research (ICAR) 2024 introduced the concept of region-specific RNA-mediated resilience zones within the cerebellum, particularly within the flocculonodular lob...