An African American family with earlyonset Alzheimer disease and an APP (T714I) mutation

被引：37

作者：

Edwards-Lee, T

Ringman, JM

Chung, J

Werner, J

Morgan, A

Hyslop, PS

Thompson, P

Dutton, R

Mlikotic, A

Rogaeva, E

Hardy, J

机构：

[1] NIH, Neurogenet Lab, NIA, Bethesda, MD 20892 USA

[2] Harbor UCLA Med Ctr, Dept Neurol, Torrance, CA 90509 USA

[3] Harbor UCLA Med Ctr, Dept Psychiat, Torrance, CA 90509 USA

[4] Harbor UCLA Med Ctr, Dept Radiol, Torrance, CA 90509 USA

[5] Univ Calif Los Angeles, Dept Neurol, Lab Neuroimaging, Los Angeles, CA 90024 USA

[6] Univ Toronto, Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[7] Univ Hlth Network, Dept Med, Div Neurol, Toronto, ON, Canada

来源：

NEUROLOGY | 2005年 / 64卷 / 02期

关键词：

D O I：

10.1212/01.WNL.0000149761.70566.3E

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The occurrence of an APP T174I mutation is described in a large American family of African descent with Alzheimer disease. The clinical characteristics were an unusually early onset of disease (early 30s), similar to a previously reported age at onset of this mutation in an Austrian family. Distinct from that family, seizures and myoclonus were prominent features of the disease in this kindred.

引用

收藏

页码：377 / 379

页数：3

相关论文

共 10 条

[1]

Ethnic differences and disease phenotypes [J].

Hardy, J ;

Singleton, A ;

Gwinn-Hardy, K .

SCIENCE, 2003, 300 (5620) :739-740

[2]

Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease [J].

Heckmann, JM ;

Low, WC ;

de Villiers, C ;

Rutherfoord, S ;

Vorster, A ;

Rao, H ;

Morris, CM ;

Ramesar, RS ;

Kalaria, RN .

BRAIN, 2004, 127 :133-142

[3]

Nonfibrillar diffuse amyloid deposition due to a γ42-secretase site mutation points to an essential role for N-truncated Aβ42 in Alzheimer's disease [J].

Kumar-Singh, S ;

De Jonghe, C ;

Cruts, M ;

Kleinert, R ;

Wang, R ;

Mercken, M ;

De Strooper, B ;

Vanderstichele, H ;

Löfgren, A ;

Vanderhoeven, I ;

Backhovens, H ;

Vanmechelen, E ;

Kroisel, PM ;

Van Broeckhoven, C .

HUMAN MOLECULAR GENETICS, 2000, 9 (18) :2589-2598

[4]

HETEROGENEITY IN DEMENTIA OF THE ALZHEIMER TYPE - EVIDENCE OF SUBGROUPS [J].

MAYEUX, R ;

STERN, Y ;

SPANTON, S .

NEUROLOGY, 1985, 35 (04) :453-461

[5]

An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala) [J].

Pasalar, P ;

Najmabadi, H ;

Noorian, AR ;

Moghimi, B ;

Jannati, A ;

Soltanzadeh, A ;

Krefft, T ;

Crook, R ;

Hardy, J .

NEUROLOGY, 2002, 58 (10) :1574-1575

[6]

Presenilin 1 mutation in an African American family presenting with atypical Alzheimer dementia [J].

Rippon, GA ;

Crook, R ;

Baker, M ;

Halvorsen, E ;

Chin, S ;

Hutton, M ;

Houlden, H ;

Hardy, J ;

Lynch, T .

ARCHIVES OF NEUROLOGY, 2003, 60 (06) :884-888

[7]

The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease [J].

Rogaeva, E .

NEUROMOLECULAR MEDICINE, 2002, 2 (01) :1-10

[8]

Lewy body and Alzheimer pathology in a family with the amyloid-β precursor protein APP717 gene mutation [J].

Rosenberg, CK ;

Pericak-Vance, MA ;

Saunders, AM ;

Gilbert, JR ;

Gaskell, PC ;

Hulette, CM .

ACTA NEUROPATHOLOGICA, 2000, 100 (02) :145-152

[9]

ALZHEIMERS-DISEASE FAMILIES WITH AMYLOID PRECURSOR PROTEIN MUTATIONS [J].

ROSSOR, MN ;

NEWMAN, S ;

FRACKOWIAK, RSJ ;

LANTOS, P ;

KENNEDY, AM .

ALZHEIMERS DISEASE: AMYLOID PRECUSOR PROTEINS, SIGNAL TRANSDUCTION, AND NEURONAL TRANSPLANTATION, 1993, 695 :198-202

[10]

Mapping hippocampal and ventricular change in Alzheimer disease [J].

Thompson, PM ;

Hayashi, KM ;

de Zubicaray, GI ;

Janke, AL ;

Rose, SE ;

Semple, J ;

Hong, MS ;

Herman, DH ;

Gravano, D ;

Doddrell, DM ;

Toga, AW .

NEUROIMAGE, 2004, 22 (04) :1754-1766