Association of Amyotrophic Lateral Sclerosis and Alzheimer’s Disease: New Entity or Coincidence? A Case Series

Article type: Short Communication

Authors: Vrillon, Agathe^{a; b; *} | Deramecourt, Vincent^c | Pasquier, Florence^c | Magnin, Éloi^d | Wallon, David^e | Lozeron, Pierre^f | Bouaziz-Amar, Élodie^{g; h} | Paquet, Claire^{i; j}

Affiliations: [a] APHP GHU Nord Lariboisière Fernand-Widal, Cognitive Neurology Centre, Paris, France | [b] Université de Paris Inserm UMR S1144 Optimization in Neuropsychopharmacology, Paris, France | [c] Université de Lille, Inserm, CHU Lille, Lille Neuroscience & Cognition, CNRMAJ, LiCEND, DistAlz, Lille, France | [d] Département de Neurologie, University Hospital of Besançon, Besançon, France; Clinical and Integrative Neuroscience, Research Laboratory 481, Bourgogne Franche-Comté University, Besançon, France | [e] Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Neurology and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, CIC-CRB1404, Rouen, France | [f] Service de Physiologie Clinique-Explorations Fonctionnelles, APHP, Hôpital Lariboisière, Paris, France | [g] Service de Biochimie et Biologie moléculaire, APHP GHU Nord Lariboisière-Fernand Widal, Paris, France | [h] Université de Paris Inserm UMR S1144 Optimization in Neuropsychopharmacology, Paris, France | [i] APHP GHU Nord Lariboisière Fernand-Widal, Centre de Neurologie Cognitive, Paris, France | [j] Université de Paris Inserm UMR S1144 Optimization in Neuropsychopharmacology, Paris, France

Correspondence: [*] Correspondence to: Dr. Agathe Vrillon, Cognitive Neurology Centre, University Hospital Lariboisière Fernand Widal, 200 rue du Faubourg Saint-Denis, 75010, Paris France. Tel.: +33676243561; Fax: +33142167504; E-mail: agathe.vrillon@aphp.fr.

Abstract: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia have a strong clinical, genetic, and pathological connection but association of ALS with Alzheimer’s disease (AD) is seldom reported. We report a series of 5 cases of AD associated with ALS. Our patients presented with cognitive deterioration with episodic memory impairment meeting criteria for AD. ALS occurred subsequently in all cases and its phenotype was not homogenous. Amyloid process was confirmed in four cases with cerebrospinal fluid biomarkers. One case underwent postmortem exam, demonstrating hallmarks lesions of both diseases. This series highlights that ALS-AD phenotype could be a specific underexplored entity.

Keywords: Alzheimer’s disease, amyotrophic lateral sclerosis, cerebrospinal fluid biomarkers, neurodegenerative disorders, neuropathology

DOI: 10.3233/JAD-215226

Journal: Journal of Alzheimer's Disease, vol. 84, no. 4, pp. 1439-1446, 2021