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GTR Home > Conditions/Phenotypes > Spastic ataxia 2

Spastic ataxia 2

Synonyms
Ataxia, spastic, 2, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Autosomal recessive spastic ataxia-2 (SPAX2) is a neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected (summary by Dor et al., 2014). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600). [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LTXS1, SATX2, SAX2, SPAX2, SPG58, KIF1C
    Summary: kinesin family member 1C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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