Woods C G, Taylor A M
Department of Clinical Genetics, Churchill Hospital, Headington, Oxford.
Q J Med. 1992 Feb;82(298):169-79.
Seventy individuals with ataxia telangiectasia were studied: 29 females and 41 males with an age range of 2 to 42 years. The majority (43/68) presented by 3 years of age with truncal ataxia. All had progressive, handicapping neurological symptoms exhibiting ataxia (70/70), ocular motor apraxia (70/70), an impassive face (70/70), dysarthria (70/70), chorea (68/70), dystonia (55/70) and peripheral neuropathy (50/70). Clinical immune deficiency was present in 43 of 70 patients. Ocular telangiectasia were seen in all but one case and excessive thinness in 54 of 70. The mean age of loss of walking was 10 years and of writing 8 years. All 60 tested showed increased sensitivity to ionizing irradiation, 43 of 48 had an elevated alpha-fetoprotein level and 14 of 21 had an immunoglobulin deficiency. Although there was a marked variation in disease findings sibs were always similar. The heterogeneity seen seems at odds with the unilocus linkage of ataxia telangiectasia to 11q23.
对70例共济失调毛细血管扩张症患者进行了研究：其中29例女性，41例男性，年龄范围为2至42岁。大多数患者（43/68）在3岁时出现躯干共济失调。所有患者均有进行性、致残性神经症状，表现为共济失调（70/70）、眼球运动失用（70/70）、表情淡漠（70/70）、构音障碍（70/70）、舞蹈症（68/70）、肌张力障碍（55/70）和周围神经病变（50/70）。70例患者中有43例存在临床免疫缺陷。除1例患者外，其余所有患者均可见眼部毛细血管扩张，70例中有54例患者体型过度消瘦。平均失步行走年龄为10岁，失写年龄为8岁。所有60例接受检测的患者对电离辐射的敏感性均增加，48例中有43例甲胎蛋白水平升高，21例中有14例存在免疫球蛋白缺乏。尽管疾病表现存在明显差异，但同胞兄弟姐妹的症状总是相似的。所观察到的异质性似乎与共济失调毛细血管扩张症与11q23的单基因座连锁相矛盾。
