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Case Reports
. 2011 Apr 19;76(16):1435-6.
doi: 10.1212/WNL.0b013e318216eb5f.

Presenilin-1 mutation associated with amnesia, ataxia, and medial temporal lobe T2 signal changes

Tobias C Langheinrich  1 , Charles A J Romanowski, Stephen Wharton, Marios Hadjivassiliou
Affiliations
Case Reports

Presenilin-1 mutation associated with amnesia, ataxia, and medial temporal lobe T2 signal changes

Tobias C Langheinrich et al. Neurology. .
No abstract available

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Figures

Figure 1
Figure 1. Axial proton density MRI of the brain at presentation, demonstrating bilateral mesial temporal hyperintensity (arrows) and generalized atrophy
See this image and copyright information in PMC

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References

    1. Frisoni GB, Fox NC, Jack CR, Jr, Scheltens P, Thompson PM. The clinical use of structural MRI in Alzheimer disease. Nat Rev Neurol 2010;6:67–77 - PMC - PubMed
    1. Marrosu MG, Floris G, Costa G, et al. Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation. Neurology 2006;66:108–111 - PubMed
    1. Adair JC, Lee RR. Abnormal fluid-attenuated inversion recovery signal foci in the splenium of a patient with presenilin-1 mutation. AJNR Am J Neuroradiol 2004;25:1864–1865 - PMC - PubMed
    1. Snider BJ, Norton J, Coats MA, et al. Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. Arch Neurol 2005;62:1821–1830 - PubMed
    1. Piccini A, Zanusso G, Borghi R, et al. Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. Arch Neurol 2007;64:738–745 - PubMed

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