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Valosin-containing protein (VCP) Disease and Familial Alzheimer’s Disease: Contrasts and Overlaps
- Smith, CD;
- Badadani, M;
- Nalbandian, A;
- Dec, E;
- Vesa, J;
- Donkervoort, S;
- Martin, B;
- Watts, GD;
- Caiozzo, V;
- Kimonis, VE
- Editor(s): De La Monte, Suzanne
Abstract
Introduction Contrasts between two entities may be illuminating because of the emphasis on what each is not. Here we describe two proteinopathies producing brain neurodegeneration in mature adults, autosomal dominant valosin-containing protein (VCP) disease and Familial Alzheimer’s disease (FAD) caused by presenillin-1 (PSEN1) mutations, illustrating both contrasting patterns of clinical presentation and known neuropathologic and imaging features, and points of congruence.
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