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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 12

Hereditary spastic paraplegia 12

Synonyms
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; Spastic paraplegia 12
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Spastic paraplegia-12 (SPG12) is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties. Some patients may have urinary symptoms and distal sensory impairment. Age at onset ranges from childhood to adulthood (summary by Montenegro et al., 2012). For a general description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). [from OMIM]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HMNR11, NSP2, NSPL1, NSPLI, SPG12, RTN2
    Summary: reticulon 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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