Clinical Research Directory

Nerve Ultrasound in Acquired and Genetic Sensory Neuronopathies

Sponsor: Assistance Publique - Hôpitaux de Paris

Summary

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.

Official title: The Role of Nerve Ultrasound in Distinguishing Acquired and Genetic Sensory Neuronopathies (Ganglionopathy): A Multicenter Retrospective Study

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