This report describes Gerstmann-Straussler disease (GSD), one of several inherited prion disease in humans (see MIM:176640); the disease is inherited as an autosomal dominant. The human gene implicated is the prion protein gene, PRNP. (See, also, the human disease model report for prion diseases, FBhh0000185.) No fly gene orthologous to PRNP has been identified.
Multiple different UAS constructs of the mouse Mmus\Prnp gene have been introduced into flies, including wild-type and constructs with a specific mutational lesion implicated in Gerstmann-Straussler disease. Variant(s) implicated in human disease tested (as transgenic mouse gene, Prnp): corresponding to P102L in the human PRNP gene.
[updated Jul. 2017 by FlyBase; FBrf0222196]
The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and associated with coding mutations in the PRNP gene. Inherited prion diseases include familial Creutzfeldt-Jakob disease (CJD; MIM:123400), Gerstmann-Straussler disease (GSD; MIM:137440), and fatal familial insomnia (FFI; MIM:600072). Acquired prion diseases in humans include iatrogenic CJD, kuru (MIM:245300), and variant CJD (vCJD). Variant CJD is believed to be acquired from cattle infected with BSE. The majority of human cases of prion disease occur as sporadic CJD (sCJD) (Collinge et al., 1996, pubmed:8878476; Parchi et al., 2000, pubmed:10963679; Hill et al., 2003, pubmed:12764055). [from MIM:176640; 2016.03.01]
[GERSTMANN-STRAUSSLER DISEASE; GSD](https://omim.org/entry/137440)
[PRION PROTEIN; PRNP](https://omim.org/entry/176640)
Gerstmann-Straussler disease (GSD) is a rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain (Gerstmann et al., 1936). GSD typically presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. GSD can be distinguished from Creutzfeldt-Jakob disease (CJD) by earlier age at onset, longer disease duration, and prominent cerebellar ataxia (Masters et al., 1981; pubmed:7023604). [from MIM:137440; 2016.03.01]
Mutations in the human prion protein gene (PRNP) have been implicated in GSD; it is inherited as an autosomal dominant. Several specific missense mutations have been implicated in this form of prion disease, including P102L. [from MIM:137440; 2016.03.01]
The protein encoded by PRNP is a membrane glycoprotein that tends to aggregate into rod-like structures. Its primary physiological function is unclear; it may be required for neuronal myelin sheath maintenance. [Gene Cards, PRNP; 2018.04.19]
There is no ortholog of the prion protein gene (PRNP) in flies.
