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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 54

Hereditary spastic paraplegia 54

Synonyms
Spastic paraplegia 54, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spastic paraplegia-54 (SPG54) is a complicated form of spastic paraplegia, a neurodegenerative disorder affecting fibers of the corticospinal tract. Affected individuals have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak (summary by Schuurs-Hoeijmakers et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. [from OMIM]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SAMWD1, SPG54, iPLA(1)gamma, iPLA1A, iPLA1gamma, p125B, DDHD2
    Summary: DDHD domain containing 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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