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

被引：13

作者：

Arai, Noritoshi ^{[1
]}

Kishino, Atsushi ^{[1
]}

Takahashi, Yuji ^{[1
]}

Morita, Daiji ^{[1
]}

Nakamura, Koichiro ^{[1
]}

Yokoyama, Takahiro ^{[2
]}

Watanabe, Tomoji ^{[2
]}

Ida, Masayoshi ^{[2
]}

Goto, Jun ^{[1
]}

Tsuji, Shoji ^{[1
]}

机构：

[1] Univ Tokyo, Grad Sch Med, Dept Neurol, Bunkyo Ku, Tokyo 1138655, Japan

[2] Toranomon Bun In Hosp, Dept Neurol, Kanagawa 2138587, Japan

来源：

NEUROGENETICS | 2008年 / 9卷 / 01期

关键词：

D O I：

10.1007/s10048-007-0104-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：65 / 67

页数：3

共 10 条

[1] Arango D, 2001, AM J MED GENET, V103, P138, DOI 10.1002/1096-8628(20011001)103:2<138::AID-AJMG1529>3.0.CO
[2] 2-8
[3] Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease
Heckmann, JM
Low, WC
de Villiers, C
Rutherfoord, S
Vorster, A
Rao, H
Morris, CM
Ramesar, RS
Kalaria, RN
[J]. BRAIN, 2004, 127 : 133 - 142
[4] Amyloid angiopathy and variability in amyloid β deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease
Mann, DMA
Pickering-Brown, SM
Takeuchi, A
Iwatsubo, T
[J]. AMERICAN JOURNAL OF PATHOLOGY, 2001, 158 (06) : 2165 - 2175
[5] EARLY-ONSET ALZHEIMERS-DISEASE IN 2 LARGE BELGIAN FAMILIES
MARTIN, JJ
GHEUENS, J
BRUYLAND, M
CRAS, P
VANDENBERGHE, A
MASTERS, CL
BEYREUTHER, K
DOM, R
CEUTERICK, C
LUBKE, U
VANHEUVERSWIJN, H
DEWINTER, G
VAN BROECKHOVEN, C
[J]. NEUROLOGY, 1991, 41 (01) : 62 - 68
[6] Enhancement of amyloid β 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease
Murayama, O
Tomita, T
Nihonmatsu, N
Murayama, M
Sun, XY
Honda, T
Iwatsubo, T
Takashima, A
[J]. NEUROSCIENCE LETTERS, 1999, 265 (01) : 61 - 63
[7] Palmer M S, 1999, Hum Mutat, V13, P256, DOI 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU11>3.0.CO
[8] 2-P
[9] Molecular diagnosis of autosomal dominant early onset Alzheimer's disease:: an update
Raux, G
Guyant-Maréchal, L
Martin, C
Bou, J
Penet, C
Brice, A
Hannequin, D
Frebourg, T
Campion, D
[J]. JOURNAL OF MEDICAL GENETICS, 2005, 42 (10) : 793 - 795
[10] New developments in high-throughput resequencing and variation detection using high density microarrays
Warrington, JA
Shah, NA
Chen, XY
Janis, M
Liu, CM
Kondapalli, S
Reyes, V
Savage, MR
Zhang, ZM
Watts, R
DeGuzman, M
Berno, A
Snyder, J
Baid, J
[J]. HUMAN MUTATION, 2002, 19 (04) : 402 - 409

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