Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene: Implication for genotype-phenotype correlation [1]

Neurogenetics

Volumn 9, Issue 1, 2008, Pages 65-67

  Arai, Noritoshi ^a   Kishino, Atsushi ^a   Takahashi, Yuji ^a   Morita, Daiji ^a   Nakamura, Koichiro ^a   Yokoyama, Takahiro ^b   Watanabe, Tomoji ^b   Ida, Masayoshi ^b   Goto, Jun ^a   Tsuji, Shoji ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b Department of Neurology   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E; PRESENILIN 1; TAU PROTEIN;

ADULT; ALZHEIMER DISEASE; CASE REPORT; CEREBROSPINAL FLUID; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LETTER; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

ADULT; AGE OF ONSET; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; ERYTHROMYCIN ETHYLSUCCINATE; FEMALE; GENES, DOMINANT; GENOTYPE; HUMANS; JAPAN; MALE; MUTATION, MISSENSE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PRESENILIN-1;

EID: 38649142843     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-007-0104-2     Document Type: Letter

References (8)

1. Warrington JA, Shah NA, Chen X, Janis M, Liu C, Kondapalli S, Reyes V, Savage MP, Zhang Z, Watts R, DeGuzman M, Berno A, Snyder J, Baid J (2002) New developments in high-throughput resequencing and variation detection using high density microarrays. Hum Mutat 19:402-409
2. Martin JJ, Gheuens J, Bruyland M, Cras P, Vandenberghe A, Masters CL, Beyreuther K, Dom R, Ceuterick C, Lübke H, Van Heuverswijn H, De Winter G, Van Broeckhoven C (1991) Early-onset Alzheimer's disease in 2 large Belgian families. Neurology 41:62-68
3. Palmer MS, Beck JA, Campbell TA, Humphries CB, Roques PK, Fox NC, Harvey R, Rossor MN, Collinge J (1999) Pathologic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Hum Mutat 13:256
4. Arango D, Cruts M, Torres O, Backhovens H, Serrano ML, Villareal E, Montanes P, Matallana D, Cano C, Van Broeckhoven C, Jacquier M (2001) Systematic genetic study of Alzheimer's disease in Latin America amyloid β precursor protein and presenilin genes in Colombia. Am J Med Genet 103:138-143
5. Heckmann JM, Low WC, de Villiers C, Rutherfoord S, Vorster A, Rao H, Morris CM, Ramesar RS, Kalaria RN (2004) Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease. Brain 127:133-142
6. Raux G, Guyant-Marechal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D (2005) Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet 42:793-795
7. Maruyama O, Tomita T, Nihonmatsu N, Murayama M, Sun X, Honda T, Iwatsubo T, Takashima A (1999) Enhancement of amyloid β 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease. Neurosci Lett 265:61-63
8. Mann DMA, Pickering-Brown SM, Takeuchi A, Iwatsubo T, The members of the Familial Alzheimer's Disease Pathology Study Group (2001) Amyloid angiopathy and variability in amyloid β deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease. Am J Pathol 158:2165-2175