ライフサイエンスコーパス: Gerstmann

1 Gerstmann-Straussler-Scheinker (GSS) disease is a domina

2 Gerstmann-Straussler-Scheinker disease (GSS) is an inher

3 Gerstmann-Straussler-Scheinker disease (GSS) is characte

4 Gerstmann-Straussler-Scheinker syndrome (GSS) is a genet

5 n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Straussler-Scheinker syndrome (GSS)) n = 4), p

6 Importantly, a Gerstmann-Straussler-Scheinker mutation carrier in the a

7 This mutation results in a Gerstmann-Straussler-Scheinker-like disease with extensi

8 Whereas a Gerstmann-Straussler-Scheinker disease version of PrP wi

9 o the Y145Stop PrP variant associated with a Gerstmann-Straussler-Scheinker-like prion disease) spont

10 rP cerebral amyloid angiopathy (PrP-CAA) and Gerstmann-Straussler-Scheinker (GSS) syndrome.

11 sporadic Creutzfeldt-Jakob disease (CJD) and Gerstmann-Straussler-Scheinker F198S disease brains all

12 disease, Creutzfeldt-Jakob disease (CJD) and Gerstmann-Straussler-Scheinker syndrome have been attrib

13 seases such as Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker syndrome.

14 akob disease and related conditions, such as Gerstmann-Straussler-Scheinker disease.

15 have been identified: prion mutations cause Gerstmann Straussler syndrome and hereditary Creuzfeldt-

16 tions create anchorless molecules that cause Gerstmann-Straussler-Scheinker (GSS) disease.

17 on disease, Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker syndrome, and fatal famil

18 onally have been classified as familial CJD, Gerstmann-Straussler-Scheinker syndrome, or fatal famili

19 nd a low sensitivity limited to variant CJD, Gerstmann-Straussler-Scheinker syndrome and fatal famili

20 While many present with classical Gerstmann-Straussler-Scheinker syndrome, a slowly progre

21 ssociated with neuropathologically confirmed Gerstmann-Straussler-Scheinker disease displaying a some

22 The genetic prion disease Gerstmann-Straussler-Scheinker syndrome can arise from p

23 ly distinct forms of familial prion disease (Gerstmann-Straussler-Scheinker P102L).

24 hat include Kuru, Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome (GSS), and fatal

25 (Phe(198) --> Ser) associated with familial Gerstmann-Straussler-Scheinker disease.

26 inherited prion disease P102L, historically Gerstmann-Straussler-Scheinker syndrome, originates from

27 y exhibit several hallmark features of human Gerstmann-Straussler-Scheinker (GSS) syndrome.

28 Our Tg(PrP-A116V) mice model Gerstmann-Straussler-Scheinker disease (GSS), a genetic

29 nt of an inherited human prion disease named Gerstmann-Straussler-Scheinker syndrome.

30 cular-neuropathological profile of a case of Gerstmann-Straussler-Scheinker disease associated with a

31 asymptomatic woman with a family history of Gerstmann-Straussler-Sheinker syndrome (GSS).

32 We developed a cell model of Gerstmann-Straussler-Scheinker disease, a neurodegenerat

33 histologic changes that are pathognomonic of Gerstmann-Straussler-Scheinker disease.

34 seases, and perhaps more akin to subtypes of Gerstmann-Straussler-Scheinker disease.

35 tients with various mutations causing CJD or Gerstmann-Straussler-Scheinker syndrome, 6 had positive

36 Shorter, Gerstmann-Straussler-Scheinker-like PrP(res) fragments a

37 with an inherited prion disease [also termed Gerstmann-Straussler-Scheinker (GSS) syndrome] with unus

38 to noncyclic aliphatic residues such as the Gerstmann-Straussler-Scheinker-linked leucines can promo

39 re model and in the human brain carrying the Gerstmann-Straussler-Scheinker disease Q217R mutation.

40 eposits and neuronal loss, by expressing the Gerstmann-Straussler-Scheinker haplotype Q217R-129V in h

41 -state folding behavior was observed for the Gerstmann-Straussler-Scheinker disease-associated F198S

42 ude the hydrophobic domain implicated in the Gerstmann-Straussler-Scheinker (GSS) mutation (P102L).

43 The clinicopathological phenotype of the Gerstmann-Straussler-Scheinker disease (GSS) variant lin

44 102 (P102L), classically associated with the Gerstmann-Straussler-Scheinker (GSS) phenotype, also sho

45 containing point mutations corresponding to Gerstmann-Straussler-Scheinker disease (P102L), Creutzfe

46 genic (Tg) mice overexpressing PrP linked to Gerstmann-Straussler Scheinker syndrome, and the failure

47 P102L in the human PrP gene, associated with Gerstmann-Straussler syndrome (GSS), has been introduced

48 pathogenic mutation A116V is associated with Gerstmann-Straussler-Scheinker syndrome, but no accumula