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Molecular pathology of ataxia telangiectasia 期刊名称： Journal of Clinical Pathology
作者： Taylor AM,Byrd PJ
作者机构： CR-UK Institute for Cancer Studies,
年份： 2005年
期号： 第10期mvpen
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关键词： Ataxia Telangiectasia；共济失调性毛细血管扩张
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windelnexisted摘要：Ataxia telangiectasia (A-T) is one of a group of autosomal recessive cerebellar ataxias. Prentation is usually by the age of 2 years and ataxia of both upper and lower limbs develops, such that by early teenage most patients require a wheelchair for mobility. Speech and eye movement are also affected. Other important features are t(7;14) translocations, immunodeficiency, a high rum alpha fetoprotein concentration, growth retardation, telangiectasia-most noticeably on the bulbar conjunctiva-and a very high risk of developing a lymphoid tumour. Patients also show an incread n
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sitivity to ionising radiation. The classic form of A-T results from the prence of two truncating ATM mutations, leading to total loss of the ATM protein, a protein kina. Importantly, A-T shows clinical heterogeneity, including milder 经典的电影
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