The Role of Nerve Ultrasound in Distinguishing Acquired and Genetic Sensory Neuronopathies (Ganglionopathy): A Multicenter Retrospective Study
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 50
- 主要终点
- Cross-sectional area of peripheral nerves according to ganglionopathy etiology (genetic vs acquired)
研究概览
简要总结
Sensory neuronopathies (also called sensory ganglionopathies) are rare and heterogeneous disorders of genetic or acquired origin, caused by degeneration of the dorsal root ganglia. Their diagnosis currently relies on a combination of clinical evaluation and electrophysiological testing, as no specific biomarker is available.
Early diagnosis is particularly important in acquired forms, where early treatment can significantly influence prognosis.
Recent studies have reported a characteristic ultrasound pattern in several genetic sensory neuronopathies, showing abnormally small-caliber peripheral nerves in the upper limbs. However, these findings have only been described in genetic conditions. It is therefore unknown whether this ultrasound pattern is specific to genetic causes or may also occur in acquired sensory neuronopathies, especially those with long-standing evolution.
This retrospective multicenter study will analyze data already collected as part of routine care in approximately 50 patients with sensory neuronopathy. The objective is to compare nerve ultrasound findings between genetic and acquired forms, and to evaluate their association with clinical severity and electrophysiological parameters. Determining whether nerve atrophy observed on ultrasound is specific to genetic etiologies could help integrate ultrasound into the diagnostic workup, guiding the choice of complementary tests such as genetic analyses or early treatment initiation in acquired cases.
详细描述
Sensory neuronopathies (also known as sensory ganglionopathies) constitute a rare and heterogeneous group of acquired and genetic disorders related to degeneration of the dorsal root ganglia. Diagnosis relies on clinical and electrophysiological features demonstrating a pure, non-length-dependent sensory involvement. At present, no specific biomarker exists, and diagnosis is based on a combination of clinical and electrophysiological criteria. Because sensory neuronopathies are disabling conditions, early diagnosis is crucial, particularly in acquired forms for which early treatment is an important prognostic factor.
Recently, several studies have reported a unique nerve ultrasound pattern in genetic sensory neuronopathies, showing reduced caliber of mixed peripheral nerves in the upper limbs. A recent literature review suggested that sufficient evidence exists to consider ultrasound as a potential marker of genetic sensory neuronopathies. However, these studies included only patients with genetic etiologies, and no data are currently available regarding ultrasound findings in acquired sensory neuronopathies. Distinguishing between acquired and genetic causes is nevertheless essential, as the prognoses are very different and treatment must be initiated rapidly in acquired forms. Clinical evaluation alone is often insufficient to differentiate these etiologies due to substantial overlap between presentations.
The objective of this study is to compare nerve ultrasound findings in a retrospective, multicenter cohort of patients with sensory neuronopathies of either genetic or acquired origin. The study also aims to analyze correlations between nerve caliber, clinical severity, disease duration, and electrophysiological parameters. Ultimately, this research seeks to determine whether the pattern of nerve atrophy observed on ultrasound is specific to genetic causes or may also be present in acquired forms.
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
- •Sensory ganglionopathy diagnosed according to the criteria of Camdessanché et al.
- •Nerve ultrasound performed as part of routine clinical care.
- •Age > 18 years.
排除标准
- •Comorbid conditions that may interfere with the interpretation of sensory ganglionopathy.
- •Lack of consent (patient opposition to the use of clinical data for research).
结局指标
主要结局
Cross-sectional area of peripheral nerves according to ganglionopathy etiology (genetic vs acquired)
时间窗: Baseline
Measurement of the cross-sectional area (mm²) of peripheral nerves on ultrasound (median nerve at forearm and arm, ulnar nerve at forearm and arm, sural nerve at ankle, radial sensory nerve at distal forearm, C5 and C6 roots at foraminal emergence, and vagus nerve at mid-cervical level) to compare nerve caliber between patients with genetic versus acquired sensory ganglionopathies
次要结局
- Correlation between nerve cross-sectional area and clinical severity(Baseline)
- Correlation between nerve cross-sectional area and electrophysiological severity(Baseline)