The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease

Journal of the Neurological Sciences

Volumn 252, Issue 2, 2007, Pages 173-176

  Larner, A J ^a   Ray, P S ^a   Doran, M ^a  

^a WALTON CENTRE FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Alzheimer's disease; Genetics; Presenilin 1; R269H

Indexed keywords

ARGININE; HISTIDINE; PRESENILIN 1;

AGED; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DOMINANT GENE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; MALE; ONSET AGE; PRIORITY JOURNAL; PS1 GENE; SIBLING;

AGE OF ONSET; AGED; ALZHEIMER DISEASE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENES, DOMINANT; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PRESENILIN-1;

EID: 33845984883     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2006.11.013     Document Type: Article

References (15)

1. Cruts M., van Duijn C.M., Backhovens H., Van den Broeck M., Wehnert A., Serneels S., et al. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet 7 (1998) 43-51
2. Alzheimer Disease and Frontotemporal Dementia Mutation Database (www.molgen.ua.ac.be/Admutations).
3. Larner A.J., and Doran M. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene. J Neurol 253 (2006) 139-158
4. McKhann G., Drachman D., Folstein M., Katzman R., Price D., and Stadlan E.M. Clinical diagnosis of Alzheimer's disease. Report of the NINCDS-ADRDA work group under the auspices of the Department of Health and Human Service Task forces on Alzheimer's disease. Neurology 34 (1984) 939-944
5. Mioshi E., Dawson K., Mitchell J., Arnold R., and Hodges J.R. The Addenbrooke's Cognitive Examination Revised (ACE-R): a brief cognitive test battery for dementia screening. Int J Geriatr Psychiatry 21 (2006) 1078-1085
6. Deakin J.B., Rahman S., Nestor P.J., Hodges J.R., and Sahakian B.J. Paroxetine does not improve symptoms and impairs cognition in frontotemporal dementia: a double-blind randomized controlled trial. Psychopharmacology 172 (2004) 400-408
7. Gómez-Isla T., Wasco W., Pettingell W.P., Gurubhagavatula S., Schmidt S.D.., Jondro P.D., et al. A novel presenilin-1 mutation: increased β-amyloid and neurofibrillary changes. Ann Neurol 41 (1997) 809-813
8. Kamimura K., Tanahashi H., Yamanaka H., Takahashi T., Asada T., and Tabira T. Familial Alzheimer's disease genes in Japanese. J Neurol Sci 160 (1998) 76-81
9. Janssen J.C., Beck J.A., Campbell T.A., Dickinson A., Fox N.C., Harvey R.J., et al. Early onset familial Alzheimer's disease. Mutation frequency in 31 families. Neurology 60 (2003) 235-239
10. Perez-Tur J., Croxton R., Wright K., Phillips H., Zehr C., Crook R., et al. A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. Neurodegeneration 5 (1996) 207-212
11. Doran M., and Larner A.J. Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation. Eur Arch Psychiatry Clin Neurosci 254 (2004) 187-189
12. Larner A.J. Genotype-phenotype correlation in early-onset Alzheimer disease with presenilin 1 gene mutations. Arch Neurol 61 (2004) 801
13. Jimenez-Escrig A., Gomez-Tortosa E., Baron M., Rabano A., Arcos-Burgos M., Palacios L.G., et al. A multigenerational pedigree of late-onset Alzheimer's disease implies new genetic causes. Brain 128 (2005) 1707-1715
14. Poduslo S.E., Huang R., and Huang J. Genetic studies of a late-onset Alzheimer's extended pedigree. Alzheimer's Dement 2 suppl1 (2006) S185 [abstract P1-301]
15. Brickell K.L., Steinbart E.J., Rumbaugh M., Payami H., Schellenberg G.D., Van Deerlin V., et al. Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer disease. Arch Neurol 63 (2006) 1307-1311