Familial Alzheimer's disease with spastic paraparesis associated with a mutation at codon 261 of the presenilin 1 gene

被引:7
作者
Farlow, MR [1 ]
Murrell, JR [1 ]
Unverzagt, FW [1 ]
Phillips, M [1 ]
Takao, M [1 ]
Hulette, C [1 ]
Ghetti, B [1 ]
机构
[1] Indiana Univ, Sch Med, Dept Neurol, Indianapolis, IN 46217 USA
来源
ALZHEIMER'S DISEASE: ADVANCES IN ETIOLOGY, PATHOGENESIS AND THERAPEUTICS | 2001年
关键词
D O I
10.1002/0470846453.ch6
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:53 / 60
页数:8
相关论文
共 15 条
[1]   A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1 [J].
Crook, R ;
Verkkoniemi, A ;
Perez-Tur, J ;
Mehta, N ;
Baker, M ;
Houlden, H ;
Farrer, M ;
Hutton, M ;
Lincoln, S ;
Hardy, J ;
Gwinn, K ;
Somer, M ;
Paetau, A ;
Kalimo, H ;
Ylikoski, R ;
Pöyhönen, M ;
Kucera, S ;
Haltia, M .
NATURE MEDICINE, 1998, 4 (04) :452-455
[2]  
CRUTS M, 2000, ADMDB ALZHEIMER DIS
[3]   A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures [J].
Ezquerra, M ;
Carnero, C ;
Blesa, R ;
Gelpí, JL ;
Ballesta, F ;
Oliva, R .
NEUROLOGY, 1999, 52 (03) :566-570
[4]   CLINICAL CHARACTERISTICS IN A KINDRED WITH EARLY-ONSET ALZHEIMERS-DISEASE AND THEIR LINKAGE TO A G-]T CHANGE AT POSITION-2149 OF AMYLOID PRECURSOR PROTEIN GENE [J].
FARLOW, M ;
MURRELL, J ;
GHETTI, B ;
UNVERZAGT, F ;
ZELDENRUST, S ;
BENSON, M .
NEUROLOGY, 1994, 44 (01) :105-111
[5]  
GHETTI B, 1999, ADV CELL AGING GERON, V3, P135
[6]   The beta A4 amyloid precursor protein gene and Alzheimer's disease [J].
Hendriks, L ;
Van Broeckhoven, C .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1996, 237 (01) :6-15
[7]  
KWOK JB, 1997, NEUROREPORT, V5, P1537
[8]   Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation [J].
Lopera, F ;
Ardilla, A ;
Martinez, A ;
Madrigal, L ;
ArangoViana, JC ;
Lemere, CA ;
ArangoLasprilla, JC ;
Hincapie, L ;
ArcosBurgos, M ;
Ossa, JE ;
Behrens, IM ;
Norton, J ;
Lendon, C ;
Goate, AM ;
RuizLinares, A ;
Rosselli, M ;
Kosik, KS .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1997, 277 (10) :793-799
[9]   DNA BANKING - THE EFFECTS OF STORAGE OF BLOOD AND ISOLATED DNA ON THE INTEGRITY OF DNA [J].
MADISEN, L ;
HOAR, DI ;
HOLROYD, CD ;
CRISP, M ;
HODES, ME .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (02) :379-390
[10]   A MUTATION IN APOLIPOPROTEIN-A-I IN THE IOWA TYPE OF FAMILIAL AMYLOIDOTIC POLYNEUROPATHY [J].
NICHOLS, WC ;
GREGG, RE ;
BREWER, HB ;
BENSON, MD .
GENOMICS, 1990, 8 (02) :318-323