Whitwell J L, Jack C R, Boeve B F, Senjem M L, Baker M, Rademakers R, Ivnik R J, Knopman D S, Wszolek Z K, Petersen R C, Josephs K A
Department of Radiology Research, Mayo Clinic, Rochester, MN 55905, USA.
Neurology. 2009 Mar 3;72(9):813-20. doi: 10.1212/01.wnl.0000343851.46573.67.
To compare patterns of gray matter loss in subjects with mutations in the progranulin (PGRN) gene to subjects with mutations in the microtubule-associated protein tau (MAPT) gene.
We identified all subjects seen at the Mayo Clinic, Rochester, MN, who had screened positive for mutations in PGRN or MAPT and had a head MRI. Twelve cases with mutations in the PGRN gene were matched by time from disease onset to scan to 12 subjects with mutations in the MAPT gene. Voxel-based morphometry was used to assess patterns of gray matter loss in the PGRN and MAPT groups compared to a control cohort, and compared to each other. MAPT subjects were younger than the PGRN subjects; therefore, each group was also compared to a specific age-matched control group.
Both PGRN and MAPT groups showed gray matter loss in frontal, temporal, and parietal lobes compared to controls, although loss was predominantly identified in posterior temporal and parietal lobes in PGRN and anteromedial temporal lobes in MAPT. The MAPT group had greater loss compared to healthy subjects of the same age than the PGRN subjects when compared to healthy subjects of the same age. The MAPT subjects showed greater gray matter loss in the medial temporal lobes, insula, and putamen than the PGRN subjects.
These results increase understanding of the biology of these disorders and suggest that patterns of atrophy on MRI may be useful to aid in the differentiation of groups of PGRN and MAPT mutation carriers.
比较颗粒前体蛋白（PGRN）基因突变受试者与微管相关蛋白tau（MAPT）基因突变受试者的灰质损失模式。
我们确定了在明尼苏达州罗切斯特市梅奥诊所就诊的所有受试者，这些受试者PGRN或MAPT基因突变筛查呈阳性且进行了头部MRI检查。将12例PGRN基因突变病例按疾病发作至扫描的时间与12例MAPT基因突变受试者进行匹配。基于体素的形态学测量用于评估PGRN组和MAPT组与对照组相比的灰质损失模式，并进行组间比较。MAPT受试者比PGRN受试者年轻；因此，每组还与特定年龄匹配的对照组进行比较。
与对照组相比，PGRN组和MAPT组在额叶、颞叶和顶叶均出现灰质损失，尽管PGRN组主要在颞叶后部和顶叶，而MAPT组主要在颞叶前内侧。与同年龄的健康受试者相比，MAPT组比PGRN组有更大的损失。MAPT受试者在内侧颞叶、岛叶和壳核的灰质损失比PGRN受试者更大。
这些结果加深了对这些疾病生物学特性的理解，并表明MRI上的萎缩模式可能有助于区分PGRN和MAPT突变携带者群体。
