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伴有脑血管淀粉样变的家族性小脑共济失调

Familial cerebellar ataxia with cerebrovascular amyloid.

作者信息

Love S, Duchen L W

出版信息

J Neurol Neurosurg Psychiatry. 1982 Mar;45(3):271-3. doi: 10.1136/jnnp.45.3.271.

DOI:10.1136/jnnp.45.3.271
PMID:7086450
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC491352/
Abstract

We report a rare association of familial cerebellar ataxia (without dementia) and cerebrovascular amyloid. Postmortem neuropathological examination of one member of the family showed amyloid angiopathy of the central nervous system with heavy infiltration of capillaries in the hippocampus and cerebellum.

摘要

我们报告了一例家族性小脑共济失调（无痴呆）与脑血管淀粉样变的罕见关联。对该家族一名成员进行的尸检神经病理学检查显示，中枢神经系统存在淀粉样血管病，海马体和小脑的毛细血管有大量浸润。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38a9/491352/d631fcc03a9e/jnnpsyc00047-0090-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38a9/491352/bc3fad5a246f/jnnpsyc00047-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38a9/491352/d631fcc03a9e/jnnpsyc00047-0090-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38a9/491352/bc3fad5a246f/jnnpsyc00047-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38a9/491352/d631fcc03a9e/jnnpsyc00047-0090-b.jpg

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本文引用的文献

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[Subacute spongiform encephalopathy with multiform plaque formation. "Peculiar familial-hereditary disease of CNS [spinocerebellar atrophy with dementia, plaques, and plaque-like deposits in cerebellum and cerebrum" (Gerstmann, Sträussler, Scheinker)] (author's transl)].伴有多形性斑块形成的亚急性海绵状脑病。“中枢神经系统的特殊家族遗传性疾病[脊髓小脑萎缩伴痴呆，小脑和大脑中有斑块及斑块样沉积物”（格斯特曼、施特劳斯勒、申克）]（作者译）
Acta Neuropathol. 1980;49(3):205-12. doi: 10.1007/BF00707108.
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Beta-pleated sheet fibrils. A comparison of native amyloid with synthetic protein fibrils.β-折叠片层纤维。天然淀粉样蛋白与合成蛋白纤维的比较。
J Histochem Cytochem. 1974 Dec;22(12):1141-58. doi: 10.1177/22.12.1141.
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BRI2基因的遗传改变：家族性英国和丹麦痴呆症
Brain Pathol. 2006 Jan;16(1):71-9. doi: 10.1111/j.1750-3639.2006.tb00563.x.
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Regional distribution of amyloid-Bri deposition and its association with neurofibrillary degeneration in familial British dementia.家族性英国痴呆症中β淀粉样蛋白-Bri沉积的区域分布及其与神经原纤维变性的关联
Am J Pathol. 2001 Feb;158(2):515-26. doi: 10.1016/S0002-9440(10)63993-4.
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Congophilic angiopathy with intracerebral hemorrhage.伴有脑出血的嗜刚果红血管病
West J Med. 1985 Oct;143(4):498-502.
6
Subacute spongiform encephalopathy (Creutzfeldt-Jakob disease) with amyloid angiopathy.伴有淀粉样血管病的亚急性海绵状脑病（克雅氏病）
J Neurol Neurosurg Psychiatry. 1985 Nov;48(11):1175-8. doi: 10.1136/jnnp.48.11.1175.
7
Nonspecific dementia, cortical blindness, and Congophilic angiopathy. A clinicopathological report.非特异性痴呆、皮质盲和嗜刚果红血管病。一份临床病理报告。
J Neurol. 1987 Jan;234(1):14-8. doi: 10.1007/BF00314002.
8
Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.一种表现为小脑共济失调和锥体束征的家族性淀粉样多神经病变异型的分子分析。
J Clin Invest. 1987 Dec;80(6):1706-11. doi: 10.1172/JCI113261.
9
Current status review: cerebral amyloid.现状综述：脑淀粉样蛋白
Int J Exp Pathol. 1992 Aug;73(4):535-50.
Relationship of amyloid to aging. Review of the literature and systematic study of 83 patients derived rom a general hospital population.
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