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Disease characteristics

Excerpted from the GeneReview: Alzheimer Disease Overview
Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., ≥2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years).

Associated genes

  • Also known as: A2MD, CPAMD5, FWP007, S863-7, A2M
    Summary: alpha-2-macroglobulin

  • Also known as: ACE1, CD143, DCP, DCP1, ICH, MVCD3, ACE
    Summary: angiotensin I converting enzyme

  • Also known as: FE65L, FE65L1, APBB2
    Summary: amyloid beta (A4) precursor protein-binding, family B, member 2

  • Also known as: AAA, ABETA, ABPP, AD1, APPI, CTFgamma, CVAP, PN-II, PN2, APP
    Summary: amyloid beta (A4) precursor protein

  • Also known as: BH, BMH, BLMH
    Summary: bleomycin hydrolase

  • Also known as: HFE1, HH, HLA-H, MVCD7, TFQTL2, HFE
    Summary: hemochromatosis

  • Also known as: , MPO
    Summary: myeloperoxidase

  • Also known as: ECNOS, eNOS, NOS3
    Summary: nitric oxide synthase 3 (endothelial cell)

  • Also known as: CAGF28, CAGF29, PACIP1, PAXIP1L, PTIP, TNRC2, PAXIP1
    Summary: PAX interacting (with transcription-activation domain) protein 1

  • Also known as: RP11-417O11.1, ATF, BDPLT5, QPD, UPA, URK, u-PA, PLAU
    Summary: plasminogen activator, urokinase

  • Also known as: C11orf32, LR11, LRP9, SORLA, SorLA-1, gp250, SORL1
    Summary: sortilin-related receptor, L(DLR class) A repeats containing

Clinical features

  • Long-tract signs
  • Dementia
  • Parkinsonism
  • Neurofibrillary tangles
  • Alzheimer disease

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