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GTR Home > Conditions/Phenotypes > Neurodegeneration with brain iron accumulation 6

Neurodegeneration with brain iron accumulation 6

Synonyms
COASY protein-associated neurodegeneration
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by Dusi et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DPCK, NBIA6, NBP, PCH12, PPAT, UKR1, pOV-2, COASY
    Summary: Coenzyme A synthase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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