axonalisia

Axonalisia is a proposed neurological condition characterized by progressive axonal dysfunction, with emphasis on impaired axonal transport and cytoskeletal integrity, leading to disrupted signal conduction and neuronal vulnerability.

The term combines the word axon with a suffix echoing lysis to denote disintegration, and it appears in some speculative discussions of axonal pathology.

Most hypotheses point to disrupted microtubule stability, dysregulated motor protein function, and uneven mitochondrial distribution within axons, with secondary demyelination possible in advanced stages. Clinically, patients may report sensory paresthesias, progressive weakness, gait instability, fatigue, and, in later stages, cognitive impairment due to network disintegration.

There are no established diagnostic criteria for axonalisia, and its recognition relies on exclusion and research-based assessments. Investigations might include nerve conduction studies showing slowed conduction and EMG abnormalities consistent with axonal involvement, MRI or diffusion tensor imaging revealing white matter changes, and experimental biomarkers such as neurofilament light chain elevations. Management is currently supportive, focusing on physical and occupational therapy, symptom control, and rehabilitation. Experimental approaches seek to stabilize the cytoskeleton, improve mitochondrial function, or enhance axonal transport, but none has proven disease-modifying.

Axonalisia remains a topic of theoretical discussion rather than a widely accepted clinical entity. Its proposed status varies among researchers, and more work is needed to define diagnostic criteria, natural history, and effective therapies.

See also: axonal transport, neurodegenerative neuropathies, demyelinating diseases.