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GTR Home > Conditions/Phenotypes > Spastic paraplegia 88, autosomal dominant

Spastic paraplegia 88, autosomal dominant

Summary

Autosomal dominant spastic paraplegia-88 (SPG88) is characterized by onset of symptoms in the first year of life. Affected individuals show delayed motor development with walking difficulties due to spasticity of the lower limbs. The disorder is slowly progressive, but variable in severity; some patients are unable to ambulate independently. Most patients have a pure form of the disorder, although rare patients have been reported to have additional features, including peripheral neuropathy, speech delay, ADHD, and nonspecific brain imaging abnormalities (Schob et al., 2021, Estiar et al., 2022, De Winter et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IPOA4, SPG88, SRP1, SRP1gamma, SRP4, hSRP1, KPNA3
    Summary: karyopherin subunit alpha 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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