A Novel p.Leu(381)Phe Mutation in Presenilin 1 is Associated with Very Early Onset and Unusually Fast Progressing Dementia as well as Lysosomal Inclusions Typically Seen in Kufs Disease

Article type: Short Communication

Authors: Dolzhanskaya, Natalia^a | Gonzalez, Michael A.^b | Sperziani, Fiorella^b | Stefl, Shannon^c | Messing, Jeffrey^a | Wen, Guang Y.^a | Alexov, Emil^c | Zuchner, Stephan^b | Velinov, Milen^{a; d; *}

Affiliations: [a] New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA | [b] Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA | [c] Clemson University, Clemson, SC, USA | [d] Albert Einstein College of Medicine, Bronx, NY, USA

Correspondence: [*] Correspondence to: Dr. Milen Velinov, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA. Tel.: +1 718 494 5219; Fax: +1 718 494 1072; E-mail: milen.velinov@opwdd.ny.gov.

Keywords: Alzheimer's disease, fast progressing dementia, kufs disease, lysosomal inclusions, presenilin 1 mutation

DOI: 10.3233/JAD-131340

Journal: Journal of Alzheimer's Disease, vol. 39, no. 1, pp. 23-27, 2014