The C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation Eino Solje, Päivi Hartikainen, Miko Valori, Ritva.

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The C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation Eino Solje, Päivi Hartikainen, Miko Valori, Ritva Vanninen, Jari Tiihonen, Panu Hakola, Pentti J. Tienari, Anne M. Remes Neurobiology of Aging Volume 35, Issue 7, Pages 1780.e13-1780.e17 (July 2014) DOI: 10.1016/j.neurobiolaging.2014.01.149 Copyright © 2014 Elsevier Inc. Terms and Conditions

Fig. 1 The pedigree of the siblings with Nasu-Hakola disease. Neurobiology of Aging 2014 35, 1780.e13-1780.e17DOI: (10.1016/j.neurobiolaging.2014.01.149) Copyright © 2014 Elsevier Inc. Terms and Conditions

Fig. 2 Brain computed tomography (CT) (A, at age 37 years) and magnetic resonance images (B–D, at age 38 years) of case II-1. The CT image illustrates bilateral putaminal calcifications, and faint calcification is also seen in the head of caudate nuclei. The caudate nuclei and thalami are atrophic (A). The transaxial T2-weighted image 1 year later shows more clearly atrophy in the frontal cortex and anterior cingulate gyri (B). The sagittal T1-weighted image reveals atrophy in the genu of corpus callosum (C). The coronal image demonstrates that atrophy spares the parietal lobes, posterior cingulate gyri, and hippocampi (D). Neurobiology of Aging 2014 35, 1780.e13-1780.e17DOI: (10.1016/j.neurobiolaging.2014.01.149) Copyright © 2014 Elsevier Inc. Terms and Conditions

Supplementary Fig. 1 Neurobiology of Aging 2014 35, 1780.e13-1780.e17DOI: (10.1016/j.neurobiolaging.2014.01.149) Copyright © 2014 Elsevier Inc. Terms and Conditions