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GTR Home > Conditions/Phenotypes > Spastic paraplegia 79A, autosomal dominant, with ataxia

Spastic paraplegia 79A, autosomal dominant, with ataxia

Synonyms
Spastic paraplegia 79A, autosomal dominant

Summary

Autosomal dominant spastic paraplegia-79A with ataxia (SPG79A) is a slowly progressive neurodegenerative disorder characterized predominantly by cerebellar and/or sensory ataxia and spasticity of the lower limbs leading to gait difficulties. The onset is usually in adulthood (median age of 49 years), but can range from childhood to age 70. Additional common features include sensorimotor neuropathy and visual impairment with optic atrophy. The disorder is slowly progressive (Park et al., 2022). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HEL-117, HEL-S-53, NDGOA, PARK5, PGP 9.5, PGP9.5, PGP95, SPG79, SPG79A, UCHL-1, Uch-L1, UCHL1
    Summary: ubiquitin C-terminal hydrolase L1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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