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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 26

Hereditary spastic paraplegia 26

Synonyms
SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; Spastic paraplegia 26
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary by Boukhris et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). [from OMIM]

Available tests

25 tests are in the database for this condition.

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Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GALGT, GALNACT, GalNAc-T, SPG26, B4GALNT1
    Summary: beta-1,4-N-acetyl-galactosaminyltransferase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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