A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances

被引：40

作者：

Queralt, R

Ezquerra, M

Lleó, A

Castellví, M

Gelpí, J

Ferrer, I

Acarín, N

Pasarín, L

Blesa, R

Oliva, R

机构：

[1] Univ Barcelona, Genet Serv, Hosp Clin, Barcelona 08036, Spain

[2] Hosp Gen Valle Hebron, Neurol Serv, Barcelona, Spain

[3] Hosp Gen Valle Hebron, Bank Neurol Tissues, Barcelona, Spain

[4] IMAS, Inst Psiquiatr, Barcelona, Spain

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2002年 / 72卷 / 02期

关键词：

D O I：

10.1136/jnnp.72.2.266

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A novel mutation (V89L) in the presenilin 1 (PSEN1) gene is described in a family with pathologically confirmed Alzheimer's disease. The mutation was identified in two affected members with early onset Alzheimer's disease characterised by early and marked behavioural disturbances, The mutation is located on the same side of the helix as other described mutations in the first transmembrane domain and its relation to other mutations in this helix suggests that they share a common pathogenic mechanism.

引用

页码：266 / 269

页数：4

共 16 条

[1] PROTEIN DATA BANK - COMPUTER-BASED ARCHIVAL FILE FOR MACROMOLECULAR STRUCTURES [J].

BERNSTEIN, FC ;

KOETZLE, TF ;

WILLIAMS, GJB ;

MEYER, EF ;

BRICE, MD ;

RODGERS, JR ;

KENNARD, O ;

SHIMANOUCHI, T ;

TASUMI, M .

JOURNAL OF MOLECULAR BIOLOGY, 1977, 112 (03) :535-542

[2]

BLESA R, 1996, ANN NEUROL, V39, P515

[3] Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation [J].

Crook, R ;

Ellis, R ;

Shanks, M ;

Thal, LJ ;

PerezTur, J ;

Baker, M ;

Hutton, M ;

Haltia, T ;

Hardy, J ;

Galasko, D .

ANNALS OF NEUROLOGY, 1997, 42 (01) :124-128

[4] Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population based study of presenile Alzheimer disease [J].

Cruts, M ;

van Duijn, CM ;

Backhovens, H ;

Van den Broeck, M ;

Wehnert, A ;

Serneels, S ;

Sherrington, R ;

Hutton, M ;

Hardy, J ;

St George-Hyslop, PH ;

Hofman, A ;

Van Broeckhoven, C .

HUMAN MOLECULAR GENETICS, 1998, 7 (01) :43-51

[5] 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

[6] High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes [J].

Finckh, U ;

Müller-Thomsen, T ;

Mann, U ;

Eggers, C ;

Marksteiner, J ;

Meins, W ;

Binetti, G ;

Alberici, A ;

Hock, C ;

Nitsch, RM ;

Gal, A .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (01) :110-117

[7] SEGREGATION OF A MISSENSE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE WITH FAMILIAL ALZHEIMERS-DISEASE [J].

GOATE, A ;

CHARTIERHARLIN, MC ;

MULLAN, M ;

BROWN, J ;

CRAWFORD, F ;

FIDANI, L ;

GIUFFRA, L ;

HAYNES, A ;

IRVING, N ;

JAMES, L ;

MANT, R ;

NEWTON, P ;

ROOKE, K ;

ROQUES, P ;

TALBOT, C ;

PERICAKVANCE, M ;

ROSES, A ;

WILLIAMSON, R ;

ROSSOR, M ;

OWEN, M ;

HARDY, J .

NATURE, 1991, 349 (6311) :704-706

[8] Presenilin mutations line up along transmembrane α-helices [J].

Hardy, J ;

Crook, R .

NEUROSCIENCE LETTERS, 2001, 306 (03) :203-205

[9]

JACQUIER M, 2000, NEUROBIOL AGING, V21, pS176

[10] Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families [J].

Kamino, K ;

Sato, S ;

Sakaki, Y ;

Yoshiiwa, A ;

Nishiwaki, Y ;

Takeda, M ;

Tanabe, H ;

Nishimura, T ;

Ii, K ;

StGeorgeHyslop, PH ;

Miki, T ;

Ogihara, T .

NEUROSCIENCE LETTERS, 1996, 208 (03) :195-198

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