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GTR Home > Conditions/Phenotypes > Leukoencephalopathy, hereditary diffuse, with spheroids 2

Leukoencephalopathy, hereditary diffuse, with spheroids 2

Synonyms
LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS, SWEDISH TYPE

Summary

Hereditary diffuse leukoencephalopathy with spheroids-2 (HDLS2) is an autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects (summary by Sundal et al., 2012). For a discussion of genetic heterogeneity of HDLS, see HDLS1 (221820). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AARS, CMT2N, DEE29, EIEE29, HDLS2, TTD8, AARS1
    Summary: alanyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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