Document Detail

Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease.
MedLine Citation:
PMID:  22460587     Owner:  NLM     Status:  MEDLINE    
Although familial Alzheimer's disease (FAD) is an early onset AD (EAD), most patients with EAD do not have a familial disorder. Recent guidelines recommend testing for genes causing FAD only in those EAD patients with two first-degree relatives. However, some patients with FAD may lack a known family history or other indications for suspecting FAD but might nonetheless be carriers of FAD mutations. The study was aimed to identify clinical features that distinguish FAD from non-familial EAD (NF-EAD). A retrospective review of a university-based cohort of 32 FAD patients with PSEN1-related AD and 81 with NF-EAD was conducted. The PSEN1 patients, compared to the NF-EAD patients, had an earlier age of disease onset (41.8 ± 5.2 vs. 55.9 ± 4.8 years) and, at initial assessment, a longer disease duration (5.1 ± 3.4 vs. 3.3 ± 2.6 years) and lower MMSE scores (10.74 ± 8.0 vs. 20.95 ± 5.8). Patients with NF-EAD were more likely to present with non-memory deficits, particularly visuospatial symptoms, than were FAD patients. When age, disease duration, and MMSE scores were controlled in a logistical regression model, FAD patients were more likely to have significant headaches, myoclonus, gait abnormality, and pseudobulbar affect than those with NF-EAD. In addition to a much younger age of onset, FAD patients with PSEN1 mutations differed from those with NF-EAD by a history of headaches and pseudobulbar affect, as well as myoclonus and gait abnormality on examination. These may represent differences in pathophysiology between FAD and NF-EAD and in some contexts such findings should lead to genetic counseling and appropriate recommendations for genetic testing for FAD.
Aditi Joshi; John M Ringman; Albert S Lee; Kevin O Juarez; Mario F Mendez
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-03-30
Journal Detail:
Title:  Journal of neurology     Volume:  259     ISSN:  1432-1459     ISO Abbreviation:  J. Neurol.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-11     Completed Date:  2013-06-20     Revised Date:  2013-06-26    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  2182-8     Citation Subset:  IM    
Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, USA.
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MeSH Terms
Age of Onset
Alzheimer Disease / genetics,  physiopathology*
Middle Aged
Presenilin-1 / genetics*
Retrospective Studies
Grant Support
K08 AG-22228/AG/NIA NIH HHS; P50 AG-16570/AG/NIA NIH HHS; R01 AG034499/AG/NIA NIH HHS; R01AG034499-03/AG/NIA NIH HHS
Reg. No./Substance:
0/PSEN1 protein, human; 0/Presenilin-1

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