Hereditary Spastic Paraparesis 49 (TECPR2)
Hereditary spastic paraparesis 49 is an autosomal recessive disease that to date has exclusively been described in Bukharian Sephardic Jews. It is caused by pathogenic variants in the gene TECPR2. Symptoms begin in infancy, and include hypotonia, developmental delay and intellectual disability, dysmorphic facial features, spasticity and ataxia. All affected individuals to date have been homozygous for a single variant, and therefore no genotype-phenotype correlation is available. Life expectancy is unknown due to the recent identification of this disease; however, some patients died in childhood while others are currently young adults.
For information about carrier frequency and residual risk, please see the residual risk table.