A variant in GRN of Spanish origin presenting with heterogeneous phenotypes by M. Menéndez-González, A. García-Martínez, I. Fernández-Vega, A. Pitiot, V. Álvarez

“…Results: Phenotypes were strikingly different, including cases presenting with behavioral variant frontotemporal dementia, semantic variant primary progressive aphasia, rapidly progressive motor neuron disease (pathologically documented), and tremor-dominant parkinsonism. …”
Get full text

Heterogeneous clinical phenotypes of sporadic early-onset Alzheimer’s disease: a neuropsychological data-driven approach by Deepti Putcha, Yuta Katsumi, Alexandra Touroutoglou, Ani Eloyan, Alexander Taurone, Maryanne Thangarajah, Paul Aisen, Jeffrey L. Dage, Tatiana Foroud, Clifford R. Jack, Joel H. Kramer, Kelly N. H. Nudelman, Rema Raman, Prashanthi Vemuri, Alireza Atri, Gregory S. Day, Ranjan Duara, Neill R. Graff-Radford, Ian M. Grant, Lawrence S. Honig, Erik C. B. Johnson, David T. Jones, Joseph C. Masdeu, Mario F. Mendez, Erik Musiek, Chiadi U. Onyike, Meghan Riddle, Emily Rogalski, Stephen Salloway, Sharon Sha, R. Scott Turner, Thomas S. Wingo, David A. Wolk, Kyle Womack, Maria C. Carrillo, Gil D. Rabinovici, Bradford C. Dickerson, Liana G. Apostolova, Dustin B. Hammers, the LEADS Consortium

“…In contrast to the heterogeneity observed from our neuropsychological data-driven approach, diagnostic classifications for this same sample based solely on clinical judgment indicated that 82% of individuals were amnestic-predominant, 9% were non-amnestic, 4% met criteria for Posterior Cortical Atrophy, and 5% met criteria for Primary Progressive Aphasia. Conclusion A neuropsychological data-driven method to phenotype EOAD individuals uncovered a more detailed understanding of the presenting heterogeneity in this atypical AD sample compared to clinical judgment alone. …”
Get full text

Cortical Lewy Body Dementia by W. R. G. Gibb

“…The age of onset reflects that of Parkinson's disease, and clinical features, though not diagnostic, include aphasias, apraxias, agnosias, paranoid delusions and visual hallucinations. …”
Get full text

Relapsing Depression in Paramedian Thalamic Infarctions by R. W. Baumgartner, T. Landis, M. Regard

“…Thalamic infarctions have been shown to mimic a variety of higher functional deficits, such as aphasias, apraxias and attentional disorders, traditionally associated with hemispheric strokes. …”
Get full text