• Judith Machts, Kristian Loewe, Joern Kaufmann, Sibylle Jakubiczka, Susanne Abdulla, Susanne Petri, Reinhard Dengler, Hans-Jochen Heinze, Stefan Vielhaber, Mircea Ariel Schoenfeld, and Peter Bede.
• From the German Center for Neurodegenerative Diseases (J.M., S.A., H.-J.H., S.V.), Magdeburg; Departments of Neurology (J.M., K.L., J.K., S.A., H.-J.H., S.V., M.A.S.) and Knowledge and Language Processing (K.L.), and Institute for Human Genetics (S.J.), Otto-von-Guericke University, Magdeburg; Department of Neurology (S.A., S.P., R.D.), Hannover Medical School; Leibniz Institute for Neurobiology (H.-J.H., M.A.S.), Magdeburg; Kliniken Schmieder (M.A.S.), Allensbach, Germany; and Quantitative Neuroimaging Group (P.B.), Academic Unit of Neurology, Trinity College Dublin, Ireland. judith.machts@gmail.com.
• Neurology. 2015 Oct 13;85(15):1301-9.

ObjectivesTo evaluate basal ganglia changes along the amyotrophic lateral sclerosis (ALS)-ALS-frontotemporal dementia (FTD) continuum using multiple, complementary imaging techniques.MethodsSixty-seven C9orf72-negative patients with ALS and 39 healthy controls were included in a cross-sectional quantitative MRI study. Seven patients with ALS met criteria for comorbid behavioral variant FTD (ALS-FTD), 18 patients met the Strong criteria for cognitive and/or behavioral impairment (ALS-Plus), and 42 patients had no cognitive impairment (ALS-Nci). Volumetric, shape, and density analyses were performed for the thalamus, amygdala, nucleus accumbens, hippocampus, caudate nucleus, pallidum, and putamen.ResultsSignificant basal ganglia volume differences were identified between the study groups. Shape analysis revealed distinct atrophy patterns in the amygdala in patients with ALS-Nci and in the hippocampus in patients with ALS-Plus in comparison with controls. Patients with ALS-FTD exhibited pathologic changes in the bilateral thalami, putamina, pallida, hippocampi, caudate, and accumbens nuclei in comparison with all other study groups. A preferential vulnerability has been identified within basal ganglia subregions, which connect directly to key cortical sites of ALS pathology. While the anatomical patterns were analogous, the degree of volumetric, shape, and density changes confirmed incremental pathology through the spectrum of ALS-Nci, ALS-Plus, to ALS-FTD. Performance on verbal memory tests correlated with hippocampal volumes, and accumbens nuclei volumes showed a negative correlation with apathy scores.ConclusionsWe demonstrate correlations between basal ganglia measures and structure-specific neuropsychological performance and a gradient of incremental basal ganglia pathology across the ALS-ALS-FTD spectrum, suggesting that the degree of subcortical gray matter pathology in C9orf72-negative ALS is closely associated with neuropsychological changes.© 2015 American Academy of Neurology.

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