A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers

Alzheimer's disease is the most common form of dementia that occurs in later years. The diagnosis is confirmed by the pathological findings of βA4-amyloid-containing neuritic plaques and neurofibrillary tangles, the former being present in sufficient quantity commensurate with age. Other forms of dementia are more difficult to diagnose clinically; their pathology is noted for the lack of plaques and tangles. A patient with a family history of dementia presented with the clinical signs of Alzheimer's disease which lasted for 13 years. At autopsy the brain tissue had βA4-amyloid-containing neuritic plaques, but no neurofibrillary tangles (i.e., the tissue was negative for staining with the tau antibody). Genetic analysis of DNA from family members revealed no linkage with chromosome 17 markers, indicating that this was not frontotemporal dementia. However, there was linkage with chromosome 3 markers. Thus, this form of Alzheimer's disease with a pathology of plaques only is linked with markers on chromosome 3.

[1]  A A Schäffer,et al.  Avoiding recomputation in linkage analysis. , 1994, Human heredity.

[2]  A. Brun,et al.  Frontal lobe degeneration of non-Alzheimer type. Structural characteristics, diagnostic criteria and relation to other frontotemporal dementias. , 1996, Acta neurologica Scandinavica. Supplementum.

[3]  B. Winblad,et al.  Low frequency of the APP670/671 mutation in familial Alzheimer's disease in Sweden , 1993, Neuroscience Letters.

[4]  H. Möller,et al.  Rediscovery of the case described by Alois Alzheimer in 1911: historical, histological and molecular genetic analysis , 1997, Neurogenetics.

[5]  J. Wade,et al.  The clinical diagnosis of Alzheimer's disease. , 1987, Archives of neurology.

[6]  Jurg Ott,et al.  Handbook of Human Genetic Linkage , 1994 .

[7]  S. Mirra,et al.  Making the diagnosis of Alzheimer's disease. A primer for practicing pathologists. , 1993, Archives of pathology & laboratory medicine.

[8]  J. Hardy,et al.  Familial non-specific dementia maps to chromosome 3. , 1995, Human molecular genetics.

[9]  M. Pericak-Vance,et al.  Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. , 1996, American journal of human genetics.

[10]  K. Wilhelmsen,et al.  Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. , 1994, American journal of human genetics.

[11]  N L Foster,et al.  Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference , 1997, Annals of neurology.

[12]  A. Burns.  Clinical diagnosis of Alzheimer's disease , 1991 .

[13]  P. Heutink,et al.  Hereditary frontotemporal dementia is linked to chromosome 17q21—q22: A genetic and clinicopathological study of three dutch families , 1997, Annals of neurology.

[14]  F. Pasquier,et al.  Frontotemporal dementia: its rediscovery. , 1997, European neurology.

[15]  A A Schäffer,et al.  Faster sequential genetic linkage computations. , 1993, American journal of human genetics.

[16]  J. Rommens,et al.  Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene , 1995, Nature.

[17]  G. Schellenberg,et al.  Candidate gene for the chromosome 1 familial Alzheimer's disease locus , 1995, Science.

[18]  Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. , 1994, Journal of neurology, neurosurgery, and psychiatry.

[19]  D. Pollen,et al.  Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease , 1995, Nature.

[20]  L. Farrer,et al.  Estimating the probability for major gene Alzheimer disease. , 1994, American journal of human genetics.

[21]  R. Katzman.,et al.  Senile Dementia of the Alzheimer Type Without Neocortical Neurofibrillary Tangles , 1987, Journal of neuropathology and experimental neurology.

[22]  J. Ott.  Computer-simulation methods in human linkage analysis. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[23]  J. Ott,et al.  Strategies for multilocus linkage analysis in humans. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[24]  M. Abrahamson,et al.  Apolipoprotein-E genotyping in Alzheimer's disease and frontotemporal dementia. , 1997, Dementia and geriatric cognitive disorders.

[25]  J. Brown,et al.  Chromosome 3-linked frontotemporal dementia , 1998, Cellular and Molecular Life Sciences CMLS.

[26]  M. Pericak-Vance,et al.  Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease , 1991, Nature.

[27]  A. D. Roses,et al.  Association of apolipoprotein E allele €4 with late-onset familial and sporadic Alzheimer’s disease , 2006 .

[28]  G. Schellenberg,et al.  Tau is a candidate gene for chromosome 17 frontotemporal dementia , 1998, Annals of neurology.