Histopathology and APOE genotype of the first Alzheimer disease patient, Auguste D.

被引:57
作者
Graeber, MB
Kosel, S
Grasbon-Frodl, E
Moller, HJ
Mehraein, P
机构
[1] Max Planck Inst Neurobiol, Dept Neuromorphol, Mol Neuropathol Lab, D-82152 Martinsried, Germany
[2] Univ Munich, Inst Neuropathol, Mol Neuropathol Lab, D-8000 Munich, Germany
[3] Univ Munich, Psychiat Clin, D-8000 Munich, Germany
关键词
Alzheimer disease; amyloid plaques; APOE gene; dementia; neurofibrillary tangles;
D O I
10.1007/s100480050033
中图分类号
Q3 [遗传学];
学科分类号
071007 [遗传学]; 090102 [作物遗传育种];
摘要
Alois Alzheimer published two papers on the disease which was named after him by Emil Kraepelin in 1910, Each of these papers contains clinical and pathological data on a patient Alzheimer had seen at the hospital. We have previously reported on the rediscovery of tissue sections from Alzheimer's second published case of Alzheimer disease, Johann F., which probably gave the disease its name (Neurogenetics 1997; 1:73-80), Here, we describe the histopathology and APOE genotype of Alois Alzheimer's first patient, Auguste D, As in the case of Johann F,, a large number of tissue sections belonging to Alzheimer's laboratory, which was later headed by Spielmeyer, were found among material kept at the Institute of Neuropathology of the University of Munich, As described by Alzheimer in his original report (Allg Zeitschr Psychiatr 1907; 64:146-148), there were numerous neurofibrillary tangles and many amyloid plaques, especially in the upper cortical layers of this patient. Yet, there was no microscopic evidence for vascular, i.e., arteriosclerotic, lesions, Interestingly, Alzheimer's histological preparations did not include the hippocampus or entorhinal region. The APOE genotype of this patient was shown to be epsilon 3/epsilon 3 by PCR-based restriction enzyme analysis, indicating that mutational screening of the tissue is feasible. The historical importance of the case of Auguste D, lies in the fact that it marks the beginning of research into Alzheimer disease. In addition, neurofibrillary tangles were first described in this brain.
引用
收藏
页码:223 / 228
页数:6
相关论文
共 25 条
[1]
Concerning unsual medical cases in old age [J].
Alzheimer, A .
ZEITSCHRIFT FUR DIE GESAMTE NEUROLOGIE UND PSYCHIATRIE, 1911, 4 :356-385
[2]
Alzheimer A., 1907, ALLG Z PSYCHIAT, V64, P146, DOI DOI 10.1002/CA.980080612
[3]
ALZHEIMER A, 1910, HISTOL HISTOPATHOL, V3, P401
[4]
Amaducci L, 1996, SCIENCE, V274, P328
[5]
THE 1ST ALZHEIMER-DISEASE CASE - A METACHROMATIC LEUKODYSTROPHY [J].
AMADUCCI, L ;
SORBI, S ;
PIACENTINI, S ;
BICK, KL .
DEVELOPMENTAL NEUROSCIENCE, 1991, 13 (4-5) :186-187
[6]
Consensus recommendations for the postmortem diagnosis of Alzheimer's disease [J].
Ball, M ;
Braak, H ;
Coleman, P ;
Dickson, D ;
Duyckaerts, C ;
Gambetti, P ;
Hansen, L ;
Hyman, B ;
Jellinger, K ;
Markesbery, W ;
Perl, D ;
Powers, J ;
Price, J ;
Trojanowski, JQ ;
Wisniewski, H ;
Phelps, C ;
Khachaturian, Z .
NEUROBIOLOGY OF AGING, 1997, 18 (04) :S1-S2
[7]
EGENSPERGER R, 1995, ACTA NEUROPATHOL, V90, P257
[8]
GAUPP R, 1916, MUNCHEN MED WOCHEN, V6, P195
[9]
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
[10]
Rediscovery of the case described by Alois Alzheimer in 1911: historical, histological and molecular genetic analysis [J].
Graeber, MB ;
Kosel, S ;
Egensperger, R ;
Banati, RB ;
Muller, U ;
Bise, K ;
Hoff, P ;
Moller, HJ ;
Fujisawa, K ;
Mehraein, P .
NEUROGENETICS, 1997, 1 (01) :73-80