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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Synonyms
Ataxia with Oculomotor Apraxia; Ataxia with Oculomotor Apraxia 2; Ataxia-ocular apraxia-2; Ataxia-oculomotor apraxia 2
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Ataxia with Oculomotor Apraxia Type 2
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Maria-Ceu Moreira
Michel Koenig
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Available tests

56 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS4, AOA2, SCAN2, SCAR1, STEX, Sen1, bA479K20.2, SETX
    Summary: senataxin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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