Autosomal recessive spastic paraplegia type 11

Autosomal recessive spastic paraplegia type 11 (SPG11), also known as spastic paraplegia with thin corpus callosum, is a hereditary neurodegenerative disorder caused by mutations in the SPG11 gene (also called KIAA1840), which encodes the protein spatacsin. It is one of the most common forms of autosomal recessive hereditary spastic paraplegia. SPG11 primarily affects the central nervous system, leading to progressive spasticity and weakness of the lower limbs, which significantly impairs walking ability over time. A hallmark feature is thinning of the corpus callosum, the structure connecting the two brain hemispheres, which is detectable on brain MRI. Beyond progressive spastic paraparesis, individuals with SPG11 typically develop cognitive impairment that may begin in childhood or adolescence and progressively worsen. Additional features frequently include peripheral neuropathy, dysarthria (difficulty with speech), urinary dysfunction, and learning difficulties. Some patients may also develop parkinsonism, cerebellar signs, retinal degeneration, or skeletal abnormalities such as pes cavus (high-arched feet) or scoliosis. The disease usually manifests in the first or second decade of life, with most patients presenting symptoms before age 20. Many individuals eventually require wheelchair assistance as the disease progresses. There is currently no cure or disease-modifying treatment for SPG11. Management is symptomatic and supportive, focusing on physical therapy and rehabilitation to maintain mobility, antispasticity medications (such as baclofen or tizanidine), management of urinary symptoms, speech therapy, and educational support for cognitive difficulties. Orthopedic interventions may be needed for skeletal complications. A multidisciplinary approach involving neurologists, physical therapists, occupational therapists, and other specialists is recommended to optimize quality of life.

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