Spastic Paraplegia 15 (ZFYVE26)

Spastic paraplegia 15 is an autosomal recessive disorder caused by pathogenic variants in the gene ZFYVE26. The age of onset is infancy to adolescence. Individuals typically experience progressive lower limb stiffness resulting in walking difficulty, sensory neuropathy, exaggerated reflexes, muscle wasting, and reduced bladder control. Other clinical manifestations include mild intellectual disability, vision impairment, hearing impairment, and, rarely, movement abnormalities called Parkinsonism. Almost all individuals have thinning of the corpus callosum in the brain. There is phenotypic variability, but the disorder is generally progressive. Life expectancy is possibly normal. Most individuals require wheelchair assistance or walking aids in adulthood. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):