TY - T1的夫人在< em >发生前症状MAPT < / em >突变携带者JF -神经学乔-神经病学SP - 771 LP - 778 - 1首页0.1212 / WNL。0 b013e3181f073c7六世- 75 - 9 AU - k . Kantarci盟B.F. Boeve盟Z.K. Wszolek AU - r说Rademakers盟J.L. Whitwell AU - m贝克AU -马丁Senjem盟境Samikoglu AU -科学博士Knopman AU -彼得森盟司令部C.R.杰克,Jr . Y1 - 2010/08/31 UR - //www.ez-admanager.com/content/75/9/771.abstract N2 -目的:确定质子核磁共振谱(1首页 h MRS)变化的载体microtubule-associated蛋白质(MAPT)突变的病例对照研究。Methods: Patients with MAPT mutations (N279K, V337M, R406W, IVS9-10G>T, P301L) from 5 different families (n = 24) underwent MRI and single voxel 1H MRS from the posterior cingulate gyrus inferior precuneus at 3 T. Ten of the patients were symptomatic with median Clinical Dementia Rating sum of boxes score (CDR-SOB) of 6.5 and 14 patients were presymptomatic with CDR-SOB of 0. Age- and sex-matched controls (n = 24) were recruited. Results: Symptomatic MAPT mutation carriers were characterized by decreased N-acetylaspartate/creatine (NAA/Cr) ratio, an index of neuronal integrity, increased myoinositol (mI)/Cr ratio, a possible marker for glial activity, decreased NAA/mI, and hippocampal atrophy (p < 0.001). Whereas presymptomatic MAPT mutation carriers had elevated mI/Cr and decreased NAA/mI (p < 0.001), NAA/Cr levels and hippocampal volumes were not different from controls. Decrease in NAA/Cr (R2 = 0. 22; p = 0.021) and hippocampal volumes (R2 = 0.46; p < 0.001) were associated with proximity to the expected or actual age at symptom onset in MAPT mutation carriers. Conclusion: 1H MRS metabolite abnormalities characterized by an elevated mI/Cr and decreased NAA/mI are present several years before the onset of symptoms in MAPT mutation carriers. The data suggest an ordered sequencing of the 1H MRS and MRI biomarkers. MI/Cr, a possible index of glial proliferation, precedes the decrease in neuronal integrity marker NAA/Cr and hippocampal atrophy. 1H MRS may be a useful inclusion biomarker for preventive trials in presymptomatic carriers of MAPT mutations and possibly other proteinopathies. ER -