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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 46

Hereditary spastic paraplegia 46

Synonyms
Spastic paraplegia 46, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by Boukhris et al., 2010 and Martin et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AD035, NLGase, SPG46, GBA2
    Summary: glucosylceramidase beta 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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