Kortikospinaalitie

Kortikospinaalitie is a neurological disorder that primarily affects the corticospinal tract, the major pathway responsible for transmitting motor signals from the cerebral cortex to the spinal cord and ultimately to skeletal muscles. The disease manifests as progressive weakness and spasticity, often beginning in the legs and subsequently involving the arms. Over time patients may develop a range of motor deficits including difficulty in fine motor tasks, gait disturbances, and in severe cases, a loss of ambulation.

The exact etiology of kortikospinaalitie remains uncertain, but it is frequently associated with demyelinating processes, axonal degeneration, or metabolic abnormalities affecting myelin synthesis. Genetic studies have identified mutations in several genes related to myelin maintenance and neuronal cytoskeletal integrity, though the clinical presentation can also result from traumatic injury, infection, or other neurodegenerative conditions. Inherited forms have been reported as autosomal dominant or recessive, with variable penetrance and expressivity.

Diagnostic evaluation includes magnetic resonance imaging to identify corticospinal tract lesions, nerve conduction studies, and, when indicated, cerebrospinal fluid analysis. Electrophysiological testing may reveal prolonged central motor conduction times. Genetic testing can confirm pathogenic variants in cases with suspected hereditary disease.

Treatment is largely supportive and symptomatic. Physical therapy, occupational therapy, and speech therapy help maintain functional independence. Pharmacologic interventions such as baclofen or tizanidine are employed to reduce spasticity. In some inherited cases, emerging gene‑based therapies are under investigation, but no curative treatment has yet been established.

Epidemiological data indicate that kortikospinaalitie is rare, with prevalence estimates varying due to under‑recognition. The disorder typically manifests in early adulthood, although late‑onset forms have been documented. Continued research into its molecular basis is essential for developing targeted therapies.