First Appraisal of Brain Pathology Owing to A30P Mutant Alpha-Synuclein

被引：84

作者：

Seidel, Kay ^{[1
]}

Schoels, Ludger ^{[2
,3
]}

Nuber, Silke ^{[4
]}

Petrasch-Parwez, Elisabeth ^{[5
]}

Gierga, Kristin ^{[6
]}

Wszolek, Zbigniew ^{[7
]}

Dickson, Dennis ^{[8
]}

Gai, Wei P. ^{[9
]}

Bornemann, Antje ^{[10
]}

Riess, Olaf ^{[4
]}

Rami, Abdelhaq ^{[11
]}

den Dunnen, Wilfried F. A. ^{[12
]}

Deller, Thomas ^{[1
]}

Rueb, Udo ^{[1
]}

Krueger, Rejko ^{[2
,3
]}

机构：

[1] Goethe Univ Frankfurt, Inst Clin Neuroanat, D-60590 Frankfurt, Germany

[2] Univ Tubingen, Ctr Neurol, D-72076 Tubingen, Germany

[3] Univ Tubingen, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

[4] Univ Tubingen, Dept Med Genet, Tubingen, Germany

[5] Ruhr Univ Bochum, Bochum, Germany

[6] Univ Dusseldorf, Dept Neuropathol, Dusseldorf, Germany

[7] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA

[8] Mayo Clin, Neuropathol Lab, Jacksonville, FL 32224 USA

[9] Flinders Univ S Australia, Sch Med, Dept Human Physiol, Bedford Pk, SA 5042, Australia

[10] Univ Tubingen, Inst Brain Res, D-7400 Tubingen, Germany

[11] Goethe Univ Frankfurt, Inst Cellular & Mol Anat, Frankfurt, Germany

[12] Univ Groningen, Dept Pathol & Med Biol, Univ Med Ctr Groningen, Groningen, Netherlands

来源：

ANNALS OF NEUROLOGY | 2010年 / 67卷 / 05期

关键词：

PARKINSONS-DISEASE; LEWY BODIES; MUTATION; NEUROPATHOLOGY;

D O I：

10.1002/ana.21966

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha-synuclein is clinically associated with PD symptoms. In this first pathoanatomical study of the brain of an A30P mutation carrier, we observed neuronal loss in the substantia nigra, locus coeruleus, and dorsal motor vagal nucleus, as well as widespread occurrence of alpha-synuclein immunopositive Lewy bodies, Lewy neurites, and glial aggregates. Alpha-synuclein aggregates ultrastructurally resembled Lewy bodies, and biochemical analyses disclosed a significant load of insoluble alpha-synuclein, indicating neuropathological similarities between A30P disease patients and idiopathic PD, with a more severe neuropathology in A30P carriers. ANN NEUROL 2010;67:684-689

引用

页码：684 / 689

页数：6

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