UseCases_ArguminSci_Discourse  

PubMed:18805725 JSONTXT 10 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue
T1 0-165 DRI_Background denotes Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients.
T2 166-276 DRI_Background denotes Mutations in the LRRK2 gene are the most common known cause of familial and sporadic Parkinson's disease (PD).
T3 277-397 DRI_Background denotes Few studies performed to date to assess frequency of these mutations are actually only representative of specific areas.
T4 398-451 DRI_Approach denotes Here we study the frequency and clinical phenotype of
T5 452-464 Token_Label.OUTSIDE denotes LRRK2 G2019S
T6 464-560 DRI_Approach denotes , I2020T and R1441C/G/H mutations in 356 Sardinian patients with idiopathic PD and 208 controls.
T7 561-640 DRI_Background denotes Seventeen additional subjects, relatives of PD mutated probands, were enrolled.
T8 641-774 DRI_Background denotes Eight patients were mutated in heterozygosis for LRRK2 gene (2.3%): six carried the G2019S (1.7%) and two the R1441C (0.6%) mutation.
T9 775-979 DRI_Approach denotes Three PD patients G2019S carriers (50%) were detected in two contiguous villages comprising 3921 inhabitants while the other three (50%) were identified in the remaining population of 796,079 inhabitants.
T10 980-1032 DRI_Approach denotes Only one mutated proband had a family history of PD.
T11 1033-1038 REPLACED denotes LRRK2
T12 1039-1045 Token_Label.OUTSIDE denotes G2019S
T13 1046-1178 DRI_Background denotes and R1441C mutations associated with PD were not an uncommon mutation in a Sardinian population, especially in sporadic PD patients.
T14 1179-1365 DRI_Background denotes The detection of the G2019S variant in ten unaffected relatives confirms a reduced penetrance of the underlying mutation and might explain its prevalence among patients with sporadic PD.
T15 1366-1542 DRI_Background denotes These findings may provide new insights into the importance of studies of frequency of LRKK2 mutations in PD patients originating from small ethnically homogeneous populations.