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J Alzheimers Dis. 2014;40(2):271-5. doi: 10.3233/JAD-131844.

A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

Author information

1
Department of Neurology, Singapore General Hospital, Singapore.
2
Departments of Radiology and Neurological Surgery, Washington University School of Medicine, St. Louis, MO, USA.
3
Department of Molecular and Medical Pharmacology, UCLA, Los Angeles, CA, USA.
4
Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
5
Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA Easton Center for Alzheimer's Disease Research at UCLA, Los Angeles, CA, USA.
6
Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
7
Department of Molecular Medicine, Rudjer Boskovic Institute, Zagreb, Croatia.
8
Department of Psychiatry, Washington University, St. Louis, MO, USA.

Abstract

Mutations in PSEN1 are the most common cause of autosomal dominant familial Alzheimer's disease (FAD). We describe an African-American woman with a family history consistent with FAD who began to experience cognitive decline at age 50. Her clinical presentation, MRI, FDG-PET, and PIB-PET scan findings were consistent with AD and she was found to have a novel I238M substitution in PSEN1. As this mutation caused increased production of Aβ42 in an in vitro assay, was not present in two population databases, and is conserved across species, it is likely to be pathogenic for FAD.

KEYWORDS:

African; Alzheimer's disease; PIB-PET; PSEN1; amyloid-β$_{42}$; autosomal dominant; familial; gamma-secretase; in vitro; presenilin-1

PMID:
24413619
PMCID:
PMC3972314
DOI:
10.3233/JAD-131844
[Indexed for MEDLINE]
Free PMC Article
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