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GTR Home > Conditions/Phenotypes > Spastic paraplegia 87, autosomal recessive

Spastic paraplegia 87, autosomal recessive

Summary

Autosomal recessive spastic paraplegia-87 (SPG87) is a neurologic disorder characterized by the onset of lower limb spasticity in infancy or early childhood. Affected individuals have mildly delayed walking, spastic gait, and hyperreflexia; the upper limbs and bulbar regions are not affected. Some patients may also have mild intellectual disability or speech problems. Thus, SPG87 can manifest as either a pure or a complex disorder (Tabara et al., 2022). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C14orf171, CSC1, SPG87, hsCSC1, TMEM63C
    Summary: transmembrane protein 63C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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