A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI

被引：19

作者：

Aoki, M ^{[1
]}

Abe, K ^{[1
]}

Oda, N ^{[1
]}

Ikeda, M ^{[1
]}

Tsuda, T ^{[1
]}

Kanai, M ^{[1
]}

Shoji, M ^{[1
]}

StGeorgeHyslop, PH ^{[1
]}

Itoyama, Y ^{[1
]}

机构：

[1] TOHOKU UNIV,SCH MED,DEPT NEUROL,AOBA KU,SENDAI,MIYAGI 98077,JAPAN

来源：

NEUROLOGY | 1997年 / 48卷 / 04期

关键词：

MISSENSE MUTATIONS; WHITE-MATTER; GENE; TAU;

D O I：

10.1212/WNL.48.4.1118

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Some patients with familial Alzheimer's disease (FAD) have mutations in the presenilin-1 (PS-1) gene on chromosome 14. We report a Japanese family with AD and an Ala285Val substitution in exon 8 of the PS-1 gene. FAD in this family was characterized by relatively late onset (mean age, 50 years) and absence of myoclonus, seizures, or paratonia. Levels of tau were markedly elevated in CSF whereas CSF levels of amyloid beta protein were normal. MRI of the cranium showed marked linear signal abnormalities within white matter in the parieto-occipital lobes, consistent with cortical amyloid angiopathy of the type encountered in patients with the PS-1 gene mutation.

引用

页码：1118 / 1120

页数：3

共 10 条

[1]

FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS (ALS) IN JAPAN ASSOCIATED WITH H46R MUTATION IN CU/ZN SUPEROXIDE-DISMUTASE GENE - A POSSIBLE NEW SUBTYPE OF FAMILIAL ALS [J].

AOKI, M ;

OGASAWARA, M ;

MATSUBARA, Y ;

NARISAWA, K ;

NAKAMURA, S ;

ITOYAMA, Y ;

ABE, K .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1994, 126 (01) :77-83

[2]

TAU IN CEREBROSPINAL-FLUID - A POTENTIAL DIAGNOSTIC MARKER IN ALZHEIMERS-DISEASE [J].

ARAI, H ;

TERAJIMA, M ;

MIURA, L ;

HIGUCHI, S ;

MURAMATSU, T ;

MACHIDA, N ;

SEIKI, H ;

TAKASE, S ;

CLARK, CM ;

LEE, VMY ;

TROJANOWSKI, JQ ;

SASAKI, H .

ANNALS OF NEUROLOGY, 1995, 38 (04) :649-652

[3]

White matter lesions and cognitive deterioration in presymptomatic carriers of the amyloid precursor protein gene Codon 693 mutation [J].

Bornebroek, M ;

Haan, J ;

vanBuchem, MA ;

Lanser, JBK ;

SimonedeVriesvdWeerd, MAC ;

Zoeteweij, M ;

Roos, RAC .

ARCHIVES OF NEUROLOGY, 1996, 53 (01) :43-48

[4]

RAREFIED WHITE-MATTER IN PATIENTS WITH ALZHEIMER-DISEASE [J].

BRILLIANT, M ;

HUGHES, L ;

ANDERSON, D ;

GHOBRIAL, M ;

ELBLE, R .

ALZHEIMER DISEASE & ASSOCIATED DISORDERS, 1995, 9 (01) :39-46

[5]

PHENOTYPE OF CHROMOSOME 14-LINKED FAMILIAL ALZHEIMERS-DISEASE IN A LARGE KINDRED [J].

LAMPE, TH ;

BIRD, TD ;

NOCHLIN, D ;

NEMENS, E ;

RISSE, SC ;

SUMI, SM ;

KOERKER, R ;

LEAIRD, B ;

WIER, M ;

RASKIND, MA .

ANNALS OF NEUROLOGY, 1994, 36 (03) :368-378

[6]

TAU IN CEREBROSPINAL FLUIDS - ESTABLISHMENT OF THE SANDWICH ELISA WITH ANTIBODY SPECIFIC TO THE REPEAT SEQUENCE IN TAU [J].

MORI, H ;

HOSODA, K ;

MATSUBARA, E ;

NAKAMOTO, T ;

FURIYA, Y ;

ENDOH, R ;

USAMI, M ;

SHOJI, M ;

MARUYAMA, S ;

HIRAI, S .

NEUROSCIENCE LETTERS, 1995, 186 (2-3) :181-183

[7]

FAMILIAL ALZHEIMERS-DISEASE IN KINDREDS WITH MISSENSE MUTATIONS IN A GENE ON CHROMOSOME-1 RELATED TO THE ALZHEIMERS-DISEASE TYPE-3 GENE [J].

ROGAEV, EI ;

SHERRINGTON, R ;

ROGAEVA, EA ;

LEVESQUE, G ;

IKEDA, M ;

LIANG, Y ;

CHI, H ;

LIN, C ;

HOLMAN, K ;

TSUDA, T ;

MAR, L ;

SORBI, S ;

NACMIAS, B ;

PIACENTINI, S ;

AMADUCCI, L ;

CHUMAKOV, I ;

COHEN, D ;

LANNFELT, L ;

FRASER, PE ;

ROMMENS, JM ;

STGEORGEHYSLOP, PH .

NATURE, 1995, 376 (6543) :775-778

[8]

WHITE MATTER LESIONS ON MAGNETIC-RESONANCE-IMAGING IN CLINICALLY DIAGNOSED ALZHEIMERS-DISEASE - EVIDENCE FOR HETEROGENEITY [J].

SCHELTENS, P ;

BARKHOF, F ;

VALK, J ;

ALGRA, PR ;

VANDERHOOP, RG ;

NAUTA, J ;

WOLTERS, EC .

BRAIN, 1992, 115 :735-748

[9]

CLONING OF A GENE BEARING MISSENSE MUTATIONS IN EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE [J].

SHERRINGTON, R ;

ROGAEV, EI ;

LIANG, Y ;

ROGAEVA, EA ;

LEVESQUE, G ;

IKEDA, M ;

CHI, H ;

LIN, C ;

LI, G ;

HOLMAN, K ;

TSUDA, T ;

MAR, L ;

FONCIN, JF ;

BRUNI, AC ;

MONTESI, MP ;

SORBI, S ;

RAINERO, I ;

PINESSI, L ;

NEE, L ;

CHUMAKOV, I ;

POLLEN, D ;

BROOKES, A ;

SANSEAU, P ;

POLINSKY, RJ ;

WASCO, W ;

DASILVA, HAR ;

HAINES, JL ;

PERICAKVANCE, MA ;

TANZI, RE ;

ROSES, AD ;

FRASER, PE ;

ROMMENS, JM ;

STGEORGEHYSLOP, PH .

NATURE, 1995, 375 (6534) :754-760

[10]

AN INCREASED PERCENTAGE OF LONG AMYLOID-BETA PROTEIN SECRETED BY FAMILIAL AMYLOID-BETA PROTEIN-PRECURSOR (BETA-APP(717)) MUTANTS [J].

SUZUKI, N ;

CHEUNG, TT ;

CAI, XD ;

ODAKA, A ;

OTVOS, L ;

ECKMAN, C ;

GOLDE, TE ;

YOUNKIN, SG .

SCIENCE, 1994, 264 (5163) :1336-1340

← 1 →