Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: Clinical characteristics and genetic identification

Neurological Sciences

Volumn 31, Issue 6, 2010, Pages 781-783

  Kim, Hee Jin ^a   Kim, Hyun Young ^a   Ki, Chang Seok ^b   Kim, Seung Hyun ^a  

^a Hanyang University   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Early onset Alzheimer's disease; M139I; Presenilin 1

Indexed keywords

CHOLINESTERASE INHIBITOR; CYTOSINE; GUANINE; ISOLEUCINE; METHIONINE; PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; BASE PAIRING; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; CODON; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MEMORY DISORDER; MUTATIONAL ANALYSIS; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING;

ADULT; AGE OF ONSET; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; FAMILY HEALTH; FEMALE; HUMANS; MEMORY DISORDERS; PEDIGREE; PHENOTYPE; POINT MUTATION; PRESENILIN-1;

EID: 78650513283     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-010-0233-5     Document Type: Article

References (13)

1. A Papassotiropoulos JR Streffer C Hock RM Nitsch 2001 Genetics of Alzheimer's disease Neurol Psychiatr 152 278 287
2. R Sherrington EI Rogaev Y Liang EA Rogaeva G Levesque M Ikeda, et al. 1995 Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease Nature 375 754 760 1:CAS:528:DyaK2MXmvVymtbo%3D 10.1038/375754a0 7596406
3. D Campion C Dumanchin D Hannequin B Dubois S Belliard M Puel, et al. 1999 Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum Am J Hum Genet 65 664 670 1:CAS:528:DyaK1MXmt1egt7Y%3D 10.1086/302553 10441572 (Pubitemid 30468710)
4. AJ Larner M Doran 2006 Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene J Neurol 253 139 158 1:CAS:528:DC%2BD28XjtFegtb8%3D 10.1007/s00415-005-0019-5 16267640 (Pubitemid 43255883)
5. AJ Larner M Doran 2009 Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update J Alzheimers Dis 17 259 265 1:CAS:528:DC%2BD1MXmvVOiur8%3D 19221408
6. K Boteva M Vitek H Mitsuda H Silva PT Xu G Small JR Gilbert 1996 Mutation analysis of presenilin 1 gene in Alzheimer's disease Lancet 347 130 131 1:STN:280:DyaK287jtlSluw%3D%3D 10.1016/S0140-6736(96)90261-5 8538334 (Pubitemid 26017883)
7. R Queralt M Ezquerra M Castellvi A Lleó R Blesa R Oliva 2001 Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain Neurosci Lett 299 239 241 1:CAS:528: DC%2BD3MXpsFyjug%3D%3D 10.1016/S0304-3940(01)01498-7 11165779 (Pubitemid 32124855)
8. U Finckh T Muller-Thomsen U Mann C Eggers J Marksteiner W Meins, et al. 2000 High prevalence of pathogenic mutations in patients with early onset dementia detected by sequence analyses of four different genes Am J Hum Genet 66 110 117 1:CAS:528:DC%2BD3cXhtVWks7c%3D 10.1086/302702 10631141 (Pubitemid 30481473)
9. AJ Larner DG du Plessis 2003 Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study Eur J Neurol 10 319 323 1:STN:280:DC%2BD3s3jtVymsQ%3D%3D 10.1046/j.1468-1331.2003.00597.x 12752408 (Pubitemid 36609489)
10. F Hanisch H Kolmel 2004 Genotype-phenotype analysis in early-onset Alzheimer's disease due to presenilin-1 mutations at codon 139 Eur J Med Res 9 361 364 1:CAS:528:DC%2BD2cXptVentr0%3D 15337637
11. G McKhann D Drachman M Folstein R Katzman D Price EM Stadlan 1984 Clinical diagnosis of Alzheimer's disease: report of the NINCDSADRDA Work Group under the Auspices of Department of Health and Human Services Task Force on Alzheimer's disease Neurology 34 939 944 1:STN:280:DyaL2c3ks1altQ%3D%3D 6610841
12. KS Vetrivel YW Zhang H Xu G Thinakaran 2006 Pathological and physiological functions of presenilins Mol Neurodegener 1 4 10.1186/1750-1326-1- 4 16930451 (Pubitemid 46724554)
13. A Tandon P Fraser 2002 The presenilins Genome Biol 23 3