Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

doi:10.1001/archneurol.2010.113

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Article

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

Archives of neurology - 1 Feb 2010

Kelley Brendan J, Haidar Wael, Boeve Bradley F, Baker Matt, Shiung Maria, Knopman David S, Rademakers Rosa, Hutton Mike, Adamson Jennifer, Kuntz Karen M, Dickson Dennis W, Parisi Joseph E, Smith Glenn E, Petersen Ronald C

Abstract excerpt

OBJECTIVE: To characterize a kindred with a familial neurodegenerative disorder associated with a mutation in progranulin (PGRN), with emphasis on the unique clinical features in this kindred. DESIGN: Antemortem and postmortem characterization of a kindred with a familial neurodegenerative disorder. SETTING: Multispecialty group academic medical center. PATIENTS: Affected members of a kindred with dementia with...

Topics

Aged
Aged, 80 and over
Alzheimer Disease
Cognition Disorders
Family Health
Female
Gene Deletion
Genetic Association Studies
Genetic Predisposition to Disease
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Intercellular Signaling Peptides and Proteins

Magnetic Resonance Imaging

Male

Middle Aged

Neuropsychological Tests

Phenotype

Progranulins

Source

Open in PubMed Open full text

Identifiers

PMID: 20142525
DOI: 10.1001/archneurol.2010.113
PMCID: PMC2902004

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