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The pattern of atrophy in familial Alzheimer disease: Volumetric MRI results from the DIAN study

Cash, DM; Ridgway, GR; Liang, Y; Ryan, NS; Kinnunen, KM; Yeatman, T; Malone, IB; ... On behalf of the Dominantly Inherited Alzheimer Network (DIAN), .; + view all (2013) The pattern of atrophy in familial Alzheimer disease: Volumetric MRI results from the DIAN study. Neurology , 81 (16) pp. 1425-1433. 10.1212/WNL.0b013e3182a841c6. Green open access

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Objective: To assess regional patterns of gray and white matter atrophy in familial Alzheimer disease (FAD) mutation carriers. Methods: A total of 192 participants with volumetric T1-weighted MRI, genotyping, and clinical diagnosis were available from the Dominantly Inherited Alzheimer Network. Of these, 69 were presymptomatic mutation carriers, 50 were symptomatic carriers (31 with Clinical Dementia Rating [CDR] 5 0.5, 19 with CDR . 0.5), and 73 were noncarriers from the same families. Voxelbased morphometry was used to identify cross-sectional group differences in gray matter and white matter volume. Results: Significant differences in gray matter (p , 0.05, family-wise error–corrected) were observed between noncarriers and mildly symptomatic (CDR 5 0.5) carriers in the thalamus and putamen, as well as in the temporal lobe, precuneus, and cingulate gyrus; the same pattern, but with more extensive changes, was seen in those with CDR . 0.5. Significant white matter differences between noncarriers and symptomatic carriers were observed in the cingulum and fornix; these form input and output connections to the medial temporal lobe, cingulate, and precuneus. No differences between noncarriers and presymptomatic carriers survived correction for multiple comparisons, but there was a trend for decreased gray matter in the thalamus for carriers closer to their estimated age at onset. There were no significant increases of gray or white matter in asymptomatic or symptomatic carriers compared to noncarriers. Conclusions: Atrophy in FAD is observed early, both in areas commonly associated with sporadic Alzheimer disease and also in the putamen and thalamus, 2 regions associated with early amyloid deposition in FAD mutation carriers.

Type: Article
Title: The pattern of atrophy in familial Alzheimer disease: Volumetric MRI results from the DIAN study
Open access status: An open access version is available from UCL Discovery
DOI: 10.1212/WNL.0b013e3182a841c6
Publisher version: http://dx.doi.org/10.1212/WNL.0b013e3182a841c6
Language: English
Additional information: © 2013 American Academy of Neurology. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
URI: http://discovery.ucl.ac.uk/id/eprint/1410123

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