Evaluation of the Peripheral Nerve Ultrasound as a Diagnostic Tool in CANVAS (Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome) Neuronopathies
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 35
- 试验地点
- 1
- 主要终点
- superficial radial branch nerve ultrasound
研究概览
简要总结
Cerebellar ataxia with neuropathy and bilateral areflexia syndrome (CANVAS) is a late onset neurodegenerative disorder with a slowly progressive ataxia. It's genetic causative etiology with an autosomal recessive inheritance has a recent discovery.
It is clinically characterized by impaired visually enhanced vestibulo-ocular reflex, although patients commonly present with imbalance as a main concern, associated with sensory complaints. It has been demonstrated that sensory impairment in CANVAS patients is due to degeneration of dorsal root with abnormal sensory nerve conduction.
Previously defined diagnostic criteria included cerebellar atrophy on brain MRI, neuronopathy on electrophysiological studies and negative genetic testing for other inherited ataxia syndromes like Friedriech ataxia and spinal cerebellar ataxia (SCA).
Peripheral nerve ultrasound is a noninvasive technique, able to identify abnormal peripheral nerves with underlying injuries and specific sonographic characteristics. Pelosi et al established that patients with CANVAS have a smaller nerve cross sectional area (CSA) compared to healthy individuals and/ or axonal neuropathies.
The main objective of this study was to obtaine a detailed description of peripheral nerves in consecutive patients with CANVAS syndrome followed in theneurology department of the Universitary Hospital of Nimes (France), using conventional electrophysiology and peripheral nerve ultrasound.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients followed at the University Hospital of Nîmes between 2018-2021
- •Age > 18 years
- •Diagnosis of CANVAS with genetic evidence (RFC1+)
- •Diagnosis of neuronopathy
排除标准
- •Age <18 years
- •Chronic polyradiculoneuritis or other demyelinating neuropathy
- •Control group, inclusion criteria :
- •Patient with axonal sensory-motor or pure sensory neuropathy confirmed by electro neuromyography, and concordant with the clinic.
结局指标
主要结局
superficial radial branch nerve ultrasound
时间窗: Baseline
Comparison of axial cross-sectional area to Bilateral exploration of superficial radial branch nerve ultrasound
superficial fibular nerve ultrasound
时间窗: Baseline
Comparison of axial cross-sectional area to Bilateral exploration of superficial fibular nerve ultrasound
tibial ultrasound
时间窗: Baseline
Comparison of axial cross-sectional area to Bilateral exploration of tibial nerveat ankle ultrasound
median ultrasound
时间窗: Baseline
Comparison of axial cross-sectional area to Bilateral exploration of median nerve ultrasound
elbow ultrasound
时间窗: baseline
Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve, elbow, ultrasound
sural nerve ultrasound
时间窗: Baseline
Comparison of axial cross-sectional area to Bilateral exploration of sural nerve ultrasound
radial nerve ultrasound
时间窗: Baseline
Comparison of axial cross-sectional area to Bilateral exploration of radial nerve ultrasound
C5, C6 ultrasound
时间窗: Baseline
Comparison of axial cross-sectional area to Bilateral exploration of C5, C6 roots ultrasound
ultrasound
时间窗: Day of the evaluation
Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve, mid-forearm, ultrasound
fibular ultrasound
时间窗: Baseline
Comparison of axial cross-sectional area to Bilateral exploration of fibular nerve at the neck ultrasound
ulnar nerve at wrist ultrasound
时间窗: Baseline
Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve at wrist, ultrasound
mid-arm ultrasound
时间窗: Baseline
Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve, mid-arm, ultrasound
popliteus ultrasound
时间窗: Baseline
Comparison of axial cross-sectional area to Bilateral exploration of popliteus tibial nerve at ankle ultrasound
次要结局
未报告次要终点