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GTR Home > Conditions/Phenotypes > Inherited Creutzfeldt-Jakob disease

Inherited Creutzfeldt-Jakob disease

Synonyms
Creutzfeldt-Jakob Disease, Familial
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome. [from GeneReviews]

Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CELIAC1, HLA-DQB, IDDM1, HLA-DQB1
    Summary: major histocompatibility complex, class II, DQ beta 1

  • Also known as: ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C, PrPc, p27-30, PRNP
    Summary: prion protein (Kanno blood group)

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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