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GTR Home > Conditions/Phenotypes > Autosomal dominant striatal neurodegeneration type 1

Autosomal dominant striatal neurodegeneration type 1

Synonyms
Striatal degeneration, autosomal dominant 1

Summary

Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia (summary by Kuhlenbaumer et al., 2004). Genetic Heterogeneity of Autosomal Dominant Striatal Degeneration See also ADSD2 (616922), caused by mutation in the PDE10A gene (610652) on chromosome 6q27. [from OMIM]

Available tests

7 tests are in the database for this condition.

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Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADSD, PPNAD3, PDE8B
    Summary: phosphodiesterase 8B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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