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Medical Literature

Annotated Bibliography of Medical Literature about the Volga Germans

There has been considerable medical research conducted using Volga Germans and their descendants as the subjects. Because the gene pool of this group is often smaller than that of the general public, there are fewer external factors that must be accounted for when drawing conclusions. This bibliography captures some of this research.
Barinaga, Marcia. “Missing Alzheimer’s Gene Found.” Science 269:5226 (18 August 1995): 917-918.

Reports on the discovery of the gene that causes Alzheimer's disease in `Volga German' families. Gene on chromosome one; Understanding the disease; Identification of Volga Germans as Alzheimer's carrying families; Studies by Gerard Schellenberg and colleagues; Usefulness of the sequenced gene.

Bird, T.D. “Characteristics of Familial Alzheimer's Disease in Nine Kindreds of Volga German Ancestry.” Progress in Clinical and Biological Research 317 (1989): 229-234.

Crook, R. “Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.” Annals of Neurology 42:1 (July 1997): 124-128.

Daw, E.W., et al. "ApoE and other loci affect age of Alzheimer's disease onset in families with PS2 mutation." American Journal of Human Genetics 67:4 (2000): 48.

Levy-Lehad, Ephrat and Wijsman, Ellen M. “A Familial Alzheimer's Disease Locus on Chromosome I.” Science 269:5226 (18 August 1995): 970-974.


Demonstrates the presence of Alzheimer's disease (AD) locus on chromosome 1q31-42. Clustering of AD cases in a family; Inheritance of AD in Volga German (VG) kindreds; Absence of some genotypes in the VG pedigrees; Presence of phenocopies; Construction of haplotypes.

Levy-Lahad, Ephrat and Wasco, Wilma. “Candidate Gene for the Chromosone 1 Familial Alzheimer’s Disease Locus. Science 269:5226 (18 August 1995): 973-978.

Identifies a candidate gene for the chromosome one Alzheimer's disease (AD) locus (STM2). Predicted amino acid sequence of STM2; Study of nine Volga German families; Strategies in identifying AD chromosome one gene; Screening of coding region for mutations; Evaluation of nonmutation carriers.

Schellenberg, Gerard D. and Bird, Thomas D. “Genetic Linkage Evidence for a Familial Alzheimer’s Disease Locus on Chromosome 14. Science 258:5082 (23 October 1992): 668-672.

Presents a study of markers on chromosome 14 that gave highly significant positive lod scores in early-onset non-Volga German kindreds. Linkage analysis to search the genome for chromosomal regions harboring familial Alzheimer's disease genes; Evidence indicating a familial Alzheimer's disease locus on chromosome 14.

Tomita, Taisuke and Maruyama, Kei. “The Presenilin 2 Mutation (N141I) Linked to Familial Alzheimer Disease (Volga German families) Increases the Secretion of Amyloid Beta Protein Ending at the 42nd (or 43rd) Residue.” Proceedings of the National Academy of Sciences of the United States of America 94:5 (4 March 1997): 2025-2030.

Describes the expression of cDNAs for the wild-type presenilin (PS)1 and PS2 associated with familial Alzheimer's in Volga German (N141I) mutation of cultured cells. Metabolism of the transfected proteins and their effect on the C-terminal properties of secreted amyloid beta protein; Changes in the metabolism of PS2; Deposition of amyloid plaques.

Travis, J. “One Alzheimer’s Gene Leads to Another.” Science News 148:8 (19 August 1995): 118.

Cites a study by Gerard D. Schellenberg and his colleagues at the Veterans Affair Medical Center in Seattle, Washington, from `Science' magazine, dated August 18, 1995. Identification of a mutation on chromosome 1, which causes Alzheimer's disease; Discovery of the location of the Volga German Alzheimer's gene.
Last updated 23 November 2009.