Document Detail


Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations.
MedLine Citation:
PMID:  17698705     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Patients with frontotemporal dementia due to mutation of progranulin may have a distinct phenotype.
OBJECTIVE: To identify distinct clinical and pathologic features of patients with frontotemporal dementia who have mutations of progranulin (GRN).
DESIGN: Retrospective clinical-pathologic study.
SETTING: Academic medical center.
PATIENTS: Twenty-eight patients with frontotemporal dementia, including 9 with GRN mutations (4 autopsy cases and 5 with only clinical information) and 19 with the identical pathologic diagnosis--frontotemporal lobar degeneration with ubiquitin-positive and tau-negative inclusions (FTLD-U)--and no GRN mutations.
MAIN OUTCOME MEASURES: Demographic, symptom, neuropsychological, and autopsy characteristics.
RESULTS: Patients with and without a GRN mutation have similar demographic features, although family history is significantly more common in patients with frontotemporal dementia and a GRN mutation. Both patient groups have frequent social and personality complaints. Neuropsychological evaluation reveals a significant recognition memory deficit in patients with a GRN mutation but a significant language deficit only in patients without a GRN mutation. At autopsy, the semiquantitative burden of ubiquitin abnormality is relatively modest in both groups of patients.
CONCLUSION: Patients with a GRN mutation differ clinically from those with the same pathologic diagnosis but no GRN mutation.
Authors:
Vivianna M Van Deerlin; Elisabeth McCarty Wood; Peachie Moore; Wuxing Yuan; Mark S Forman; Christopher M Clark; Manuela Neumann; Linda K Kwong; John Q Trojanowski; Virginia M-Y Lee; Murray Grossman
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  Archives of neurology     Volume:  64     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  2007 Aug 
Date Detail:
Created Date:  2007-08-16     Completed Date:  2007-09-18     Revised Date:  2013-03-19    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1148-53     Citation Subset:  AIM; IM    
Affiliation:
Department of Pathology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-4283, USA.
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MeSH Terms
Descriptor/Qualifier:
Aged
Brain / metabolism,  pathology
Dementia / genetics*,  metabolism,  pathology,  psychology*
Female
Frontal Lobe*
Humans
Intercellular Signaling Peptides and Proteins / genetics*
Interpersonal Relations
Language Disorders / etiology
Male
Memory Disorders / etiology,  psychology
Middle Aged
Mutation*
Neuropsychological Tests
Personality Disorders / etiology
Recognition (Psychology)
Retrospective Studies
Temporal Lobe*
Ubiquitin / metabolism
Grant Support
ID/Acronym/Agency:
AG15116/AG/NIA NIH HHS; AG17586/AG/NIA NIH HHS; AGA10124//PHS HHS; NS44266/NS/NINDS NIH HHS; P01 AG017586/AG/NIA NIH HHS; P30 AG010124/AG/NIA NIH HHS; R01 AG015116/AG/NIA NIH HHS; R01 NS044266/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/GRN protein, human; 0/Intercellular Signaling Peptides and Proteins; 0/Ubiquitin

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