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GTR Home > Conditions/Phenotypes > Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Synonyms
SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE; Spastic paraplegia 79, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spastic paraplegia-79B (SPG79B) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 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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