Troyer syndrome is a type of hereditary spastic paraplegia, also called hereditary spastic paraparesis. Hereditary spastic paraplegias are a group of genetic disorders characterized by progressive stiffness (spasticity) and weakness of the leg muscles. The degree of leg weakness in people with hereditary spastic paraplegia can vary. Paraparesis is the term used to describe leg weakness, while paraplegia refers to severe weakness of the leg muscles.

Some variants (also called mutations) in the SPART gene have been found to cause Troyer syndrome. The SPART gene provides instructions for producing a protein called spartin. Spartin is found in a number of body tissues, including the brain. Researchers believe that spartin may be involved in regulating the size and number of lipid droplets inside the cell. Specifically, spartin may be involved in delivering lipid droplets to the cell's recycling center. Lipid droplets help cells use and store fats, which are an important energy source.

Around 40 cases of Troyer syndrome have been reported. This condition was first recognized in the Old Order Amish population of Ohio. It has since been found in other populations.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Published Date: September 09, 2024
Published By: National Institutes of Health