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GTR Home > Conditions/Phenotypes > Spastic ataxia 4

Spastic ataxia 4

Synonyms
Ataxia, spastic, 4, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11. [from SNOMEDCT_US]

Available tests

36 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PAPD1, SPAX4, TENT6, MTPAP
    Summary: mitochondrial poly(A) polymerase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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