Journal of Neurology

, Volume 259, Issue 10, pp 2182–2188 | Cite as

Comparison of clinical characteristics between familial and non-familial early onset Alzheimer’s disease

  • Aditi Joshi
  • John M. Ringman
  • Albert S. Lee
  • Kevin O. Juarez
  • Mario F. Mendez
Original Communication


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.


Dementia Early onset Alzheimer’s disease Familial Alzheimer’s disease PSEN1 gene 


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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Aditi Joshi
    • 1
    • 2
  • John M. Ringman
    • 1
    • 3
    • 4
  • Albert S. Lee
    • 5
  • Kevin O. Juarez
    • 2
  • Mario F. Mendez
    • 1
    • 2
    • 3
    • 4
    • 5
  1. 1.Department of Neurology, David Geffen School of MedicineUniversity of California at Los AngelesLos AngelesUSA
  2. 2.Section of Neurology, Neurobehavior Unit (691/116AF)V.A. Greater Los Angeles Healthcare CenterLos AngelesUSA
  3. 3.Psychiatry and Biobehavioral Sciences, David Geffen School of MedicineUniversity of California at Los AngelesLos AngelesUSA
  4. 4.Mary S. Easton Center for Alzheimer’s Disease ResearchUniversity of California at Los AngelesLos AngelesUSA
  5. 5.Western University of Health SciencesPomonaCalifornia

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