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Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease

By Randall J Bateman, Paul S Aisen, Bart De Strooper, Nick C Fox, Cynthia A Lemere, John M Ringman, Stephen Salloway, Reisa A Sperling, Manfred Windisch and Chengjie Xiong

Abstract

Autosomal-dominant Alzheimer's disease has provided significant understanding of the pathophysiology of Alzheimer's disease. The present review summarizes clinical, pathological, imaging, biochemical, and molecular studies of autosomal-dominant Alzheimer's disease, highlighting the similarities and differences between the dominantly inherited form of Alzheimer's disease and the more common sporadic form of Alzheimer's disease. Current developments in autosomal-dominant Alzheimer's disease are presented, including the international Dominantly Inherited Alzheimer Network and this network's initiative for clinical trials. Clinical trials in autosomal-dominant Alzheimer's disease may test the amyloid hypothesis, determine the timing of treatment, and lead the way to Alzheimer's disease prevention

Topics: Review
Publisher: BioMed Central
OAI identifier: oai:pubmedcentral.nih.gov:3109410
Provided by: PubMed Central

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  1. (2007). Aizenstein HJ, DeKosky ST: Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. J
  2. (2002). Alzheimer’s disease with spastic paresis and cotton wool type plaques.
  3. (1996). Amyloid beta protein (Aβ) deposition in chromosome 14-linked Alzheimer’s disease: predominance of Aβ42(43). Ann Neurol
  4. (1985). Amyloid plaque core protein in Alzheimer disease and Down syndrome.
  5. (1996). and severe cerebellar pathology. Nat Med
  6. (2010). Betaamyloid precursor protein mutants respond to gamma-secretase modulators.
  7. (1998). Brain volumes and regional cerebral blood fl ow in carriers of the Swedish Alzheimer amyloid protein mutation. Alzheimer Dis Assoc Disord
  8. (2002). Broeckhoven C: Dense-core senile plaques in the Flemish variant of Alzheimer’s disease are vasocentric.
  9. (1999). BT: The impact of diff erent presenilin 1 and presenilin 2 mutations on amyloid deposition, neurofi brillary changes and neuronal loss in the familial Alzheimer’s disease brain: evidence for other phenotype-modifying factors. Brain
  10. (2006). Caff arra P, Pupi A: Hypometabolism exceeds atrophy in presymptomatic early-onset familial Alzheimer’s disease.
  11. (2006). Campion D: APP locus duplication causes autosomal dominant earlyonset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet
  12. (2008). Carbon 11-labeled pittsburgh compound B positron emission tomographic amyloid imaging in patients with APP locus duplication. Arch Neurol
  13. (2008). Clinical and neuropathological features of the arctic APP gene mutation causing earlyonset Alzheimer disease. Arch Neurol
  14. (2004). Clinical, pathological, and biochemical spectrum of Alzheimer disease associated with PS-1 mutations.
  15. (1995). Cloning of a gene bearing missense mutations in earlyonset familial Alzheimer’s disease. Nature
  16. (2007). DA: Statins diff erentially aff ect amyloid precursor protein metabolism in presymptomatic PS1 and non-PS1 subjects. Arch Neurol
  17. (1999). De Strooper B: The presenilins in Alzheimer’s disease – proteolysis holds the key. Science
  18. (2007). Diff usion tensor imaging in preclinical and presymptomatic carriers of familial Alzheimer’s disease mutations. Brain
  19. (2010). Discovery and evaluation of BMS-708163, a potent, selective and orally bioavailable γ-secretase inhibitor. ACS Med Chem Lett
  20. (2001). Distinguishable eff ects of presenilin-1 and APP717 mutations on amyloid plaque deposition. Neurobiol Aging
  21. (2009). DM: A gamma-secretase inhibitor decreases amyloid-beta production in the central nervous system. Ann Neurol
  22. (2007). DM: Cerebrospinal fl uid tau/beta-amyloid(42) ratio as a prediction of cognitive decline in nondemented older adults. Arch Neurol
  23. (2005). DR: Episodic-like memory defi cits in the APPswe/PS1dE9 mouse model of Alzheimer’s disease: relationships to beta-amyloid deposition and neurotransmitter abnormalities. Neurobiol Dis
  24. (2009). Early structural changes in individuals at risk of familial Alzheimer’s disease: a and magnetization transfer MR imaging study.
  25. (2002). Elder GA: Overexpression of wild type but not an FAD mutant presenilin-1 promotes neurogenesis in the hippocampus of adult mice. Neurobiol Dis
  26. (1992). F: A locus for familial early-onset Alzheimer’s disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene. Nat Genet
  27. (2005). Familial Alzheimer disease: decreases in CSF Aβ42 levels precede cognitive decline. Neurology
  28. (2003). Fox NC: Change in rates of cerebral atrophy over time in early-onset Alzheimer’s disease: longitudinal MRI study. Lancet
  29. (1995). Frackowiak RS: Positron emission tomography in familial Alzheimer disease. Alzheimer Dis Assoc Disord
  30. (2009). Frisoni GB: Regional atrophy of transcallosal prefrontal connections in cognitively normal APOE ε4 carriers.
  31. (1961). Genealogical fi ndings in a family with Alzheimer’s disease.
  32. (1992). Genetic evidence for a novel familial Alzheimer’s disease locus on chromosome 14. Nat Genet
  33. (1963). GH: Familial Alzheimer’s disease. Neurology
  34. (2005). Global prevalence of dementia: a Delphi consensus study. Lancet
  35. (2006). GM: Diff erences in regional brain atrophy in genetic forms of Alzheimer’s disease. Neurobiol Aging
  36. (1992). GM: Genetic linkage evidence for a familial Alzheimer’s disease locus on chromosome 14. Science
  37. (2006). Henke K: Enhanced brain activity may precede the diagnosis of Alzheimer’s disease by 30 years.
  38. (2006). Holtzman DM: Inverse relation between in vivo amyloid imaging load and cerebrospinal fl uid Aβ(42) in humans. Ann Neurol
  39. (1997). Increased Aβ42(43)-plaque deposition in early-onset familial Alzheimer’s disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene. Neurosci Lett
  40. (2008). independently and diff erentially aff ected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation.
  41. (2001). Iwatsubo T: Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer’s disease.
  42. (2008). JL: Biochemical markers in persons with preclinical familial Alzheimer disease. Neurology
  43. JP: Statistical modeling in biomedical research: longitudinal data analysis.
  44. (2002). Lannfelt L: The Arctic mutation interferes with processing of the amyloid precursor protein. Neuroreport
  45. (2007). Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease. EMBO Rep
  46. (2010). M: 11C-PiB PET assessment of change in fi brillar amyloid-beta load in patients with Alzheimer’s disease treated with bapineuzumab: a phase 2, double-blind, placebo-controlled, ascending-dose study. Lancet Neurol
  47. (1992). Mapping of a gene predisposing to early-onset Alzheimer’s disease to chromosome 14q24.3. Nat Genet
  48. (2003). Mehta PD: Plasma Aβ40 and Aβ42 and Alzheimer’s disease: relation to age, mortality, and risk. Neurology
  49. (2010). MM: Pharmacokinetics and pharmacodynamics of ponezumab (PF-04360365) following a single-dose intravenous infusion in patients with mild to moderate Alzheimer’s disease [abstract]. Alzheimer’s Dement
  50. (2006). MM: Plasma Aβ(1-40) and Aβ(1-42) and the risk of dementia: a prospective case– cohort study. Lancet Neurol
  51. (2005). Morris JC: Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. Arch Neurol
  52. (1992). Phelps ME: Positron emission tomography and familial Alzheimer’s disease: a pilot study.
  53. (2010). RB: Safety and changes in plasma and cerebrospinal fl uid amyloid β after a single administration of an amyloid β monoclonal antibody in subjects with Alzheimer disease. Clin Neuropharmacol
  54. (2001). Rios A: Presenilin-1-associated abnormalities in regional cerebral perfusion. Neurology
  55. (2004). RN: Protein markers for Alzheimer disease in the frontal cortex and cerebellum. Neurology
  56. (2003). Rossor MN: Assessing the onset of structural change in familial Alzheimer’s disease. Ann Neurol
  57. (1996). Rossor MN: Predominant deposition of amyloid-beta 42(43) in plaques in cases of Alzheimer’s disease and hereditary cerebral hemorrhage associated with mutations in the amyloid precursor protein gene.
  58. (1998). Rossor MN: Presymptomatic cognitive defi cits in individuals at risk of familial Alzheimer’s disease. A prospective study.
  59. (1996). Rossor MN: Presymptomatic hippocampal atrophy in Alzheimer’s disease. A longitudinal MRI study.
  60. (2009). Rossor MN: Pure progressive amnesia and the APPV717G mutation. Alzheimer Dis Assoc Disord
  61. (2004). Rossor MN: The natural history of Alzheimer disease: a longitudinal presymptomatic and symptomatic study of a familial cohort. Arch Neurol
  62. (2009). Rowe CC: High striatal amyloid beta-peptide deposition across diff erent autosomal Alzheimer disease mutation types. Arch Neurol
  63. (2010). S: Eff ects of risk genes on BOLD activation in presymptomatic carriers of familial Alzheimer’s disease mutations during a novelty encoding task. Cerebral Cortex
  64. (1996). Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer’s disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer’s disease. Nat Med
  65. (1991). Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer’s disease. Nature
  66. (1992). Selkoe DJ: Mutation of the beta-amyloid precursor protein in familial Alzheimer’s disease increases beta-protein production. Nature
  67. (2002). Selkoe DJ: The amyloid hypothesis of Alzheimer’s disease: progress and problems on the road to therapeutics. Science
  68. (1997). Sisodia SS: Accelerated amyloid deposition in the brains of transgenic mice coexpressing mutant presenilin 1 and amyloid precursor proteins. Neuron
  69. (1996). Sisodia SS: Familial Alzheimer’s disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo. Neuron
  70. (2008). species by γ-secretase.
  71. (2004). Tanzi RE: The current status of Alzheimer’s disease genetics: what do we tell the patients? Pharmacol Res
  72. (1997). TD: Amyloid (Aβ) deposition in chromosome 1-linked Alzheimer’s disease: the Volga German families. Ann Neurol
  73. (2001). TD: Impact of DNA testing for earlyonset familial Alzheimer disease and frontotemporal dementia. Arch Neurol
  74. (2010). TD: The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. Arch Neurol
  75. (2009). Temporal lobe functional activity and connectivity in young adult APOE ε4 carriers. Alzheimers Dement
  76. (1992). The discovery and development of HMG-CoA reductase inhibitors.
  77. (1987). The genetic defect causing familial Alzheimer’s disease maps on chromosome 21. Science
  78. (2002). transgenic mouse model of Alzheimer’s disease.
  79. (2003). Trojanowski JQ: Biological markers for therapeutic trials in Alzheimer’s disease.
  80. (2009). Trojanowski JQ: Cerebrospinal fl uid biomarker signature in Alzheimer’s disease neuroimaging initiative subjects. Ann Neurol
  81. (2006). Tsuang D: Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specifi c pathologic phenotype. Arch Neurol
  82. (1934). Waggoner RW: Familial organic psychosis (Alzheimer’s type). Arch Neurol Psychiatry
  83. (2007). Weggen S: Insensitivity to Aβ42-lowering nonsteroidal antiinfl ammatory drugs and gamma-secretase inhibitors is common among aggressive presenilin-1 mutations.
  84. (1984). Wong CW: Alzheimer’s disease: initial report of the purifi cation and characterization of a novel cerebrovascular amyloid protein. Biochem Biophys Res Commun
  85. (2006). Young-onset dementia: a practical approach to diagnosis. Neurologist
  86. (2010). Zetterberg H: Cerebrospinal fl uid and plasma biomarkers in Alzheimer disease. Nat Rev Neurol
  87. (1929). Zur Diagnostik der Alzheimershen Krankheit. Zentralbl Gesamte Neurol Psychiatr