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A Novel PS1 Gene Mutation in a Large Aboriginal Kindred

Published online by Cambridge University Press:  02 December 2014

Rachel Butler ,
B. Lynn Beattie ,
Umamon Puang Thong ,
Emily Dwosh ,
Colleen Guimond ,
Howard H. Feldman ,
Ging-Yuek Robin Hsiung ,
Ekaterina Rogaeva ,
Peter St. George-Hyslop  and
A. Dessa Sadovnick
Rachel Butler
Affiliation:
Department of Medical Genetics, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
B. Lynn Beattie
Affiliation:
Division of Geriatric Medicine, Faculty of Medicine, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
Umamon Puang Thong
Affiliation:
Division of Neurology, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
Emily Dwosh
Affiliation:
Department of Medical Genetics, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
Colleen Guimond
Affiliation:
Department of Medical Genetics, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
Howard H. Feldman
Affiliation:
Division of Neurology, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC Neuroscience Bristol-Myers, Squibb Wallingford, CT, USA
Ging-Yuek Robin Hsiung
Affiliation:
Division of Neurology, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
Ekaterina Rogaeva
Affiliation:
Department of Medicine and Centre for Research in Neurodegenerative Diseases, University of Toronto, Ontario, Canada
Peter St. George-Hyslop
Affiliation:
Department of Medicine and Centre for Research in Neurodegenerative Diseases, University of Toronto, Ontario, Canada
A. Dessa Sadovnick*
Affiliation:
Department of Medical Genetics, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC Division of Neurology, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
*
FINAL REVISIONS SUBMITTED DECEMBER 14, 2009. Correspondence to: A.D. Dessa Sadovnick, VCHA-UBC Hospital, 2211 Wesbrook Mall, Vancouver, British Columbia, V6T 2B5, Canada.
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Abstract

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Background:

There is currently little information on the genetic epidemiology of Alzheimer disease (AD) among North American Aboriginal populations. No cases of familialAD (FAD) in these populations have been published to date.

Methods:

Here, we describe a large North American Aboriginal kindred with early onset FAD (EOFAD) in which genetic testing was done.

Results and Conclusions:

A novel Presenilin 1 (PS1) gene mutation (L250F) has been identified. In contrast to the three previously reported families with PS1 codon 250 mutations, affected members of this kindred demonstrate neither myoclonus nor seizures. Furthermore, the identification of a PS1 mutation in a North American Aboriginal kindred presents several unique challenges with respect to knowledge transfer and continuity of care in a geographically remote and culturally distinct community.

Type
Original Article
Information
Canadian Journal of Neurological Sciences , Volume 37 , Issue 3 , May 2010 , pp. 359 - 364
Copyright
Copyright © The Canadian Journal of Neurological 2010

References

1. Ertekin-Taner, N. Genetics of Alzheimer’s disease: a centennial review. Neurol Clin. 2007;25:611–67.Google Scholar
2. Brouwers, N, Sleegers, K, Van Broeckhoven, C. Molecular genetics of Alzheimer’s disease: an update. Ann Med. 2008;40:562–83.CrossRefGoogle ScholarPubMed
3. Hsiung, GYR, Sadovnick, AD. Genetics and dementia: risk factors, diagnosis & management. Alzheimer Dement. 2007;3:418–27.Google Scholar
4. Larner, AJ, Doran, M. Clinical phenotypic heterogeneity of Alzheimer’s disease associated with mutations of the presenilin-1 gene. J Neurol. 2006;253:139–58.Google Scholar
5. Harvey, R, Ellison, D, Hardy, J, Hutton, M, Roques, PK, Collinge, J, et al. Chromosome 14 familial Alzheimer’s disease: the clinical and neuropathological characteristics of a family with a leucine -> serine (L250S) substitution at codon 250 of the presenilin 1 gene. J Neurol Neurosurg Psychiatry. 1998;64:44–9.CrossRefGoogle ScholarPubMed
6. Furuya, H, Yasuda, M, Terasawa, KJ, Tanaka, K, Murai, H, Kira, J, et al. A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer’s disease with myoclonus and generalized convulsion. J Neurol Sci. 2003; 209:75–7.Google Scholar
7. Mehrabian, S, Traykoy, LD, Raycheva, MR, Rademakers, M, Cruts, M, Van Broeckhoven, C. Myoclonus, as an atypical phenotype in familial early onset Alzheimer’s disease. 26th IEC Proceedings. Epilepsia. 2005;46:283.Google Scholar
8. Sadovnick, AD, Irwin, ME, Baird, PA, Beattie, BL. Genetic studies on an Alzheimer clinic population. Genetic Epidemiol. 1989;6: 633–43.CrossRefGoogle Scholar
9. Sadovnick, AD, Tuokko, H, Horton, A, Baird, PA Beattie, BL. Familial Alzheimer’s disease. Can J Neurol Sci. 1988; 5:142–6.CrossRefGoogle Scholar
10. Sadovnick, AD. Association between Alzheimer’s disease and amyotrophic lateral sclerosis? Can J Neurol Sci. 1990;17:352.Google Scholar
11. Griffin-Pierce, T, Silverberg, N, Connor, D, Jim, M, Peters, J, Kaszniak, A, et al. Challenges to the recognition and assessment of Alzheimer’s disease in American Indians of the southwestern United States. Alzheim Dement. 2008;4:291–9.CrossRefGoogle Scholar
12. Statistics, Canada. (2006). First Nations peoples of Canada: A demographic profile, 2006. Available from: http://www12.statcan.ca/english/census01/Products/Analyic/companion/abor/canada.cfm Google Scholar
13. Craufurd, D, Tyler, A. Predictive testing for Huntington’s disease: protocol of the UK Huntington’s Prediction Consortium. J Med Genet. 1992;29;915–18.Google Scholar
14. Canadian Study of Health and Aging: study methods and prevalence of dementia. Can Med Assoc J. 1994;150:899–913.Google Scholar
15. Hendrie, HC, Hall, KS, Pillay, N, Rodgers, D, Prince, C, Norton, J, et al. Alzheimer’s disease is rare in Cree. Int Psychogeriatr. 1993;5:5–14.CrossRefGoogle ScholarPubMed
16. Rosenberg, RN, Richter, RW, Risser, RC, Taubman, K, Prado-Farmer, I, Ebalo, E, et al. Genetic factors for the development of Alzheimer disease in the Cherokee Indian. Arch Neurol. 1996; 54:997–1000.Google Scholar
17. Weiner, MF, Rosenberg, RN, Svetlik, D, Hynan, LS, Womack, KB, White, C 3rd, et al. Comparison of Alzheimer’s disease in Native Americans and Whites. Int Pyschogeriatr. 2003;15:367–75.CrossRefGoogle ScholarPubMed