Spinocerebellar Ataxia
Conditions
Brief summary
Spinocerebellar ataxia (SCA) is a group of hereditary neurological diseases caused by gene mutations leading to degenerative changes in the cerebellum, brainstem, and spinal cord. A key pathogenic mechanism of SCA is the repeated expansion of cytosine - adenine - guanine (CAG) trinucleotides in the coding region of specific genes. These repeated expansions are translated into abnormally large polyglutamine (PolyQ) tracts in proteins. These polyglutamine (PolyQ) tracts can cause changes in the excitability of the cerebral cortex in SCA patients. Quantitative electroencephalogram analysis (qEEG) is a modern type of electroencephalogram analysis that uses complex mathematical algorithms to process, transform, and analyze EEG signals, bringing new technologies for EEG signal feature extraction: specific frequency band and signal complexity analysis, connectivity analysis, and network analysis. It is sensitive to early neurodegenerative lesions. Using spectral analysis, nonlinear dynamics analysis, and functional connectivity analysis, we can explore the changes in cortical excitability and abnormal brain networks in SCA patients. Currently, the exploration of the quantitative electroencephalogram characteristics of SCA patients is still insufficient.
Interventions
Repetitive transcranial magnetic stimulation
Sponsors
Study design
Eligibility
Inclusion criteria
1. Spinocerebellar ataxia patients confirmed through genetic testing 2. Patient aged 18-75 3. Patients who can walk independently (with the aid of a cane/walker) without assistance from others. 4. The SARA score exceeds 3.
Exclusion criteria
1. Patients with unstable neurological disorders or accompanying medical conditions (such as stroke, arthritis, etc.) 2. Patients with significantly abnormal clinical indicators identified during screening 3. Patients concurrently participating in another clinical study 4. Patients with untreated intracranial hypertension, depression, dementia, or psychiatric disorders 5. Patients with severe heart disease 6. Patients who are wheelchair users 7. pregnant woman 8. Patients who cannot establish their identity or have limited legal capacity 9. Patients with contraindications for rTMS, including metallic objects in the head, history of neurosurgery, ferromagnetic bioimplants, metal coatings, history of seizures, autism, current use of protease inhibitors or other medications that may increase the risk of rTMS-induced seizures.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Scale for the assessment and rating of ataxia | Baseline and one week post-baseline (after treatment) | The Scale for the Assessment and Rating of Ataxia (SARA) is a clinical tool used to assess the severity of ataxia. The total score range of the SARA scale is 0 to 40 points, with higher scores indicating more severe ataxia symptoms. |
| Resting - state electroencephalogram | baseline and one week post-baseline (after treatment) | Use electroencephalogram (EEG) to collect the electroencephalogram data of participants with their eyes closed and in a waking state.Using spectral analysis, nonlinear dynamics analysis, and functional connectivity analysis, we can explore the changes in cortical excitability and abnormal brain networks in SCA patients. |
| Transcranial Magnetic Stimulation - Electroencephalogram(TMS-EEG) | Baseline and one week post-baseline (after treatment) | Transcranial magnetic stimulation is utilized to stimulate the brain, and then EEG data is immediately collected from participants using EEG to collect closed-eye, awake EEG data.Using time-frequency analysis, nonlinear dynamics analysis, and functional connectivity analysis, we can explore the changes in cortical excitability and abnormal brain networks in SCA patients. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| The International Cooperative Ataxia Rating Scale (ICARS) | Baseline and one week post-baseline (after treatment) | The International Cooperative Ataxia Rating Scale (ICARS) is a widely used clinical tool designed to assess the severity of ataxia, particularly in patients with cerebellar disorders. The total score range of the ICARS scale is 0 to 100 points, with higher scores indicating more severe ataxia symptoms. |
| Gait analysis | Baseline and one week post-baseline (after treatment) | The researchers use gait sensors to collect gait data |
| The Neurological Examination Score for the assessment of Spinocerebellar Ataxias (NESSCA) | Baseline and one week post-baseline (after treatment) | The Neurological Examination Score for the Assessment of Spinocerebellar Ataxias (NESSCA) is a clinical tool specifically designed to evaluate the severity of spinocerebellar ataxias (SCAs).The total score range of the NESSCA scale is 0 to 60 points, with higher scores indicating more severe ataxia symptoms. |
| The EQ Visual Analogue Scale | Baseline and one week post-baseline (after treatment) | The EQ Visual Analogue Scale (EQ-VAS) is a component of the EuroQol Five Dimensions Questionnaire (EQ-5D) used to assess a patient's subjective perception of their overall health.The EQ-VAS ranges from 0 to 100. 0: Represents the worst imaginable health state. 100: Represents the worst imaginable health state. High scores (closer to 100): Indicate that the patient perceives their health as very good.Low scores (closer to 0): Indicate that the patient perceives their health as very poor. |
Countries
China