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Abnormal diffusion tensor in nonsymptomatic familial amyotrophic lateral sclerosis with a causative superoxide dismutase 1 mutation

2007; Wiley; Volume: 27; Issue: 1 Linguagem: Inglês

10.1002/jmri.21217

1522-2586

Man‐Cheuk Ng, Jenny T. C. Ho, Shu‐Leong Ho, Raymand Lee, Geng Li, Tat‐Sun Cheng, You‐Qiang Song, Philip Wing‐Lok Ho, G.C.Y. Fong, Windsor Mak, Koon‐Ho Chan, Leonard Sheung‐Wai Li, K.D.K. Luk, Yong Hu, D. Ramsden, Lilian Ling‐Yee Leong,

Alzheimer's disease research and treatments

Abstract Purpose To determine whether diffusion abnormalities can be observed in nonsymptomatic family members with a known causative Cu/Zn superoxide dismutase mutation (asymptomatic familial amyotrophic lateral sclerosis; AFALS +SOD1 ) in a family with autosomal dominant familial amyotrophic lateral sclerosis (ALS) using diffusion tensor imaging (DTI). Materials and Methods A total of eight AFALS +SOD1 subjects (aged 17–43 years) were age‐matched with 13 healthy controls (aged 19–45 years) without SOD1 mutations. DTI was carried out on a 1.5T scanner. The diffusion index maps derived were then normalized spatially for voxel‐based analysis. region of interest (ROI)‐based analysis was also carried out. Results Our voxel‐based and ROI‐based analysis showed that AFALS +SOD1 subjects have decreased fractional anisotropy (FA) (0.5401 vs. 0.5168, P < 0.05) and increased tensor trace (TT) (2.5854 × 10 −3 mm 2 /second vs. 2.6226 × 10 −3 mm 2 /second, P < 0.04) at the posterior limb of the internal capsule compared to the control subjects. Increased radial diffusivity (E (2,3)/2 ) was detected on both sides (right = 0.5710 × 10 –3 mm 2 /second vs. 0.5943 × 10 –3 mm 2 /second, P < 0.05; left = 0.5666 × 10 –3 mm 2 /second vs. 0.5872 × 10 –3 mm 2 /second, P < 0.05). No significant change in axial diffusivity (E 1 ) was detected. Conclusion Abnormal diffusivity was found at the posterior limb of the internal capsule in AFALS +SOD1 subjects, hitherto unreported. Our results suggest that DTI may detect diffusion abnormalities in AFALS +SOD1 subjects before symptoms develop. J. Magn. Reson. Imaging 2007. © 2007 Wiley‐Liss, Inc.