Zusman Child Development Center, Soroka University Medical Center, Beer-Sheva, Israel; Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.
Zusman Child Development Center, Soroka University Medical Center, Beer-Sheva, Israel; Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.
Eur J Paediatr Neurol. 2021 May;32:36-39. doi: 10.1016/j.ejpn.2021.03.008. Epub 2021 Mar 11.
Ataxia-Telangiectasia (A-T) is a neurodegenerative disease caused by bi-allelic mutations in the Ataxia-Telangiectasia-Mutated (ATM) gene. Complete lack of ATM activity leads to severe A-T and mutations allowing for residual activity cause a milder phenotype, termed variant A-T. There are only sparse data on the variability in phenotypes of variant A-T patients carrying the same mutations. A retrospective study of 15 patients with variant A-T, all double homozygous for the same mutations was conducted. The age of first symptom ranged from 4-180 months, including: truncal ataxia at <18 months of age in 9 patients, ataxia and instability only during fever in one patient, dystonia in one patient and malignancy in 4 patients. Global developmental delay and occulo-motor apraxia were recorded in 4/14 patients. Variant A-T patients with the same mutations in ATM, have variable phenotypes. Environmental, epigenetic, and post translational factors are likely to play a role in creation of the phenotype in variant A-T patients.
共济失调毛细血管扩张症（A-T）是一种神经退行性疾病，由 Ataxia-Telangiectasia-Mutated（ATM）基因的双等位基因突变引起。完全缺乏 ATM 活性会导致严重的 A-T，而允许残留活性的突变则导致更温和的表型，称为变异型 A-T。关于携带相同突变的变异型 A-T 患者表型的可变性仅有稀疏的数据。对 15 名变异型 A-T 患者进行了回顾性研究，所有患者均为相同突变的双纯合子。首发症状的年龄从 4-180 个月不等，包括：9 名患者在 <18 个月时出现躯干性共济失调，1 名患者仅在发热时出现共济失调和不稳定，1 名患者出现肌张力障碍，4 名患者出现恶性肿瘤。在 4/14 名患者中记录了全面发育迟缓和眼球运动性失用症。ATM 中具有相同突变的变异型 A-T 患者具有不同的表型。环境、表观遗传和翻译后因素可能在变异型 A-T 患者的表型形成中起作用。
