Facial Onset Sensory and Motor Neuronopathy: Further Evidence for a TDP-43 Proteinopathy

Area of Science:

• Neurology
• Neuroscience
• Pathology

Background:

• Facial onset sensory and motor neuronopathy (FOSMN) syndrome is a rare neurological disorder.
• Understanding the underlying pathogenesis of FOSMN is crucial for diagnosis and treatment.

Observation:

• Presents three patients with clinical features consistent with FOSMN syndrome.
• One patient underwent post-mortem examination to investigate the neuropathology.

Findings:

• Post-mortem analysis revealed TDP-43-positive inclusions in motor neurons (bulbar and spinal) and trigeminal nerve nuclei.
• These findings suggest a neurodegenerative process involving TDP-43 pathology.

Implications:

• Supports the classification of some FOSMN cases within the spectrum of TDP-43 proteinopathies.
• Indicates that FOSMN may represent a focal or localized form of TDP-43 related neurodegeneration.