Autosomal spastic paraplegia type 18

Autosomal spastic paraplegia type 18 (SPG18), also known as hereditary spastic paraplegia 18, is a rare genetic neurological disorder characterized by progressive spasticity and weakness of the lower limbs due to degeneration of the corticospinal tract motor neurons. SPG18 is caused by mutations in the ERLIN2 gene (also known as SPFH2), which encodes a protein involved in endoplasmic reticulum-associated degradation of activated inositol 1,4,5-trisphosphate receptors. The disease primarily affects the nervous system, particularly the upper motor neurons that control voluntary movement in the legs. SPG18 can present as either a pure or complicated form of hereditary spastic paraplegia. In the pure form, patients primarily experience progressive lower limb spasticity, hyperreflexia, and gait difficulties. In the complicated form, additional neurological features may be present, including intellectual disability, seizures, and structural brain abnormalities. The complicated form tends to present earlier in life and is generally more severe. Onset is typically in childhood, though variability has been reported. There is currently no cure or disease-modifying treatment for SPG18. Management is symptomatic and supportive, focusing on physical therapy to maintain mobility and reduce spasticity, antispasticity medications such as baclofen or tizanidine, orthopedic interventions when needed, and appropriate management of seizures or cognitive difficulties if present. A multidisciplinary approach involving neurologists, physiotherapists, and rehabilitation specialists is recommended to optimize quality of life.

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