A Methodological Framework for Selecting Digital Gait Outcomes in Clinical Trials
Objective: To present a systematic framework for identifying the most sensitive, reliable, and valid digital gait measures to be used as digital endpoint in clinical…PPP2R2B Splice Variant Dysregulation Promotes Mitochondrial Association and Neuronal Apoptosis in iPSC-Derived Neurons from Spinocerebellar Ataxia Type 12 Patient
Objective: This study aimed to investigate the impact of PPP2R2B mutation in Spinocerebellar Ataxia Type 12 (SCA12) by analysing PPP2R2B splice variant expression, subcellular localization,…Genotype-Specific Risk Factors for Falls in Spinocerebellar Ataxia: A Cross-Sectional Analysis of SCA1, SCA2, SCA3, and SCA6
Objective: To determine fall prevalence and identify predictors of fall risk across SCA1, SCA2, SCA3, and SCA6. Background: Falls represent a major source of morbidity in spinocerebellar…Mapping Intrinsic Brain Network Connectivity Using Resting-State Functional MRI In Spinocerebellar Ataxia 12 In Comparison with Healthy Controls
Objective: To assess and quantify the functional brain networks in resting-state fMRI (rsfMRI) of patients with spinocerebellar ataxia type 12 (SCA 12) compared with healthy…Determinants of depression severity in patients of Spinocerebellar ataxia 12
Objective: To evaluate clinical and radiological co-relates of depression in Spinocerebellar ataxia -12 Background: Spinocerebellar ataxia type 12 (SCA12), caused by a CAG repeat expansion…Plasma Proteomics Reveals Altered Redox Balance And Protein Homeostasis In Spinocerebellar Ataxia Type 12
Objective: The current study aims to identify the dysregulated proteome in the plasma through unbiased proteomics analysis in spinocerebellar ataxia type 12 (SCA12) patients. Background:…Detecting Repeat Expansions: Added Diagnostic Yield in Movement Disorders by Optical Genome Mapping
Objective: To investigate the genetic cause in patients with rare movement disorders by utilizing optical genome mapping (OGM). Background: OGM is a genetic imaging technique,…Shunt‑Responsive Normal Pressure Hydrocephalus in Spinocerebellar Ataxia Type 12: A Case Illustrating Treatable Neurodegenerative Overlap
Objective: To report a rare coexistence of normal pressure hydrocephalus (NPH) in a patient with genetically confirmed spinocerebellar ataxia (SCA) type 12 and present a…SCA27B, an Elusive Diagnosis with Effective Symptomatic Treatment: Two Cases of Late-Onset Progressive and Episodic Cerebellar Ataxia
Objective: We present two cases of late-onset progressive and episodic cerebellar ataxia with prolonged courses of complex diagnostic work-up and management prior to genetic Spinocerebellar…The FGF14-SCA27B GAA•TTC Repeat Shows Marked Somatic Expansion in the Cerebellum
Objective: To characterize somatic instability and molecular mechanisms of the FGF14 GAA•TTC repeat across serial blood samples, fibroblasts, induced pluripotent stem cells (iPSCs), and post-mortem brains. Background: Spinocerebellar…
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