A Rare PSEN1 (Leu85Pro) Mutation Causing Alzheimer’s Disease in a 29-Year-Old Woman Presenting as Corticobasal Syndrome

Article type: Short Communication

Authors: López-García, Sara^{a; b; c; d; *} | Jiménez-Bonilla, Julio^e | López Delgado, Anjana^f | Orizaola Balaguer, Pedro^f | Infante Ceberio, Jon^a | Banzo Marraco, Ignacio^e | Rodríguez Rodríguez, Eloy^a | Sánchez-Juan, Pascual^a

Affiliations: [a] Department of Neurology, University Hospital Marqués de Valdecilla, Santander, Spain | [b] Instituto de Investigación Marqués de Valdecilla (IDIVAL), Santander, Spain | [c] Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain | [d] Universidad de Cantabria (UC), Santander, Spain | [e] Department of Nuclear Medicine, University Hospital Marqués de Valdecilla, Santander, Spain | [f] Department of Neurophysiology, University Hospital Marqués de Valdecilla, Santander, Spain

Correspondence: [*] Correspondence to: Sara López-García, Department of Neurology, University Hospital Marqués de Valdecilla, Santander, Spain. Tel.: +34 942202520/Ext. 73650; E-mail: saralopez21@hotmail.com.

Abstract: Dementia is not just a disease of old age. Early-onset dementia affects people younger than 65 and its differential diagnosis is broader than in older people. Nevertheless, although young people are considerably more liable to develop a rare form of dementia, Alzheimer’s disease (AD) remains the most common diagnosis. The aim of this article is to report on an early-onset AD patient associated with the rare pathogenic variant PSEN1 (Leu85Pro) presenting as a possible corticobasal syndrome with asymmetric limb apraxia, parkinsonian signs, and myoclonus.

Keywords: Alzheimer’s disease, amyloid PET, corticobasal syndrome, presenilin-1

DOI: 10.3233/JAD-190107

Journal: Journal of Alzheimer's Disease, vol. 70, no. 3, pp. 655-658, 2019