Characteristics of frontotemporal dementia patients with a Progranulin mutation
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Objective: Mutations in the Progranulin gene (PGRN) recently have been discovered to be associated with frontotemporal dementia (FTD) linked to 17q21 without identified MAPT mutations. The range of mutations of PGRN that can result in the FTD phenotype and the clinical presentation of patients with PGRN mutations have yet to be determined. Methods: In this study, we examined 84 FTD patients from families not known previously to have illness linked to chromosome 17 for identified PGRN and MAPT mutations and sequenced the coding exons and the flanking intronic regions of PGRN. We compared the prevalence, clinical characteristics, magnetic resonance imaging and 18‐fluoro‐deoxyglucose positron emission tomography results, and neuropsychological testing of patients with the PGRN R493X mutation with those patients without identified PGRN mutations. Results: We discovered a new PGRN mutation (R493X) resulting in a stop codon in two patients. This was the only PGRN mutation identified in our sample. The patients with the PGRN R493X mutation had a rapid illness course and had predominant right‐sided atrophy and hypometabolism on magnetic resonance imaging and 18‐fluoro‐deoxyglucose positron emission tomography. The affected father of one of the patients with the PGRN R493X mutation showed frontal and temporal atrophy without neurofibrillary tangles on neuropathological examination. Interpretation: Known PGRN and MAPT mutations were rare and of similar prevalence in our sample (2 compared with 1/84). The patients with the PGRN R493X mutation had a clinical presentation comparable with other behavior‐predominant FTD patients. The neuropathology of an affected family member of a patient with the PGRN R493X mutation appears not to be Alzheimer's disease. Ann Neurol 2006;60:374–380 This article includes supplementary materials available via the Internet at http://www.interscience.wiley.com/jpages/0364‐5134/suppmat
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- Authors
- Huey, E. D., Grafman, J., Wassermann, E. M., Pietrini, P., Tierney, M. C., Ghetti, B., Spina, S., Baker, M., Hutton, M., Elder, J. W., Berger, S. L., Heflin, K. A., Hardy, J., & Momeni, P.
- Affiliations
- National Institutes of Health (US)
- University of Pisa (IT)
- Indiana University Indianapolis (US)
- Mayo Clinic in Florida (US)
- Mayo Clinic (US)
- Corresponding author
- Grafman, Jordan
- ORCID
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2006-09
- Volume
- 60
- Issue
- 3
- Pages
- 374-380
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- PMC
- PMC2987739
- OpenAlex
- W2017702194
- Cited by
- 87
- References
- 33
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 2 · 2021: 3 · 2020: 3 · 2019: 4 · 2018: 3 · 2017: 2 · 2016: 2 · 2015: 5 · 2014: 1 · 2013: 4 · 2012: 2
- FWCI
- 10.44
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Università degli Studi di Siena
- National Institutes of Health (Z99 NS999999)
- National Institute on Aging (P30AG010133, P30 AG-10133)
- National Institute of Neurological Disorders and Stroke
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- frontotemporal dementia, progranulin gene, chromosome 17q21, MAPT mutations, hypometabolism, neurofibrillary tangles, Alzheimer's disease differential diagnosis
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Arginine, Chromosomes, Human, Pair 17, Dementia, Deoxyglucose, DNA Mutational Analysis, Female, Gene Frequency, Humans, Male, Microtubule-Associated Proteins, Middle Aged, Mutation, Neuropsychological Tests, tau Proteins, Age of Onset, Genetic Predisposition to Disease, Intercellular Signaling Peptides and Proteins, Positron-Emission Tomography
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