Raslan Ivana Rocha, de Assis Pereira Matos Paula Camila Alves, Boaratti Ciarlariello Vinícius, Daghastanli Karyme Hussein, Rosa Augusto Bragança Reis, Arita Juliana Harumi, Aranda Carolina Sanchez, Barsottini Orlando Graziani Povoas, Pedroso José Luiz
Department of Neurology, Ataxia Unit Universidade Federal de São Paulo São Paulo Brazil.
Department of Child Neurology Universidade Federal de São Paulo São Paulo Brazil.
Mov Disord Clin Pract. 2020 Nov 19;8(1):118-125. doi: 10.1002/mdc3.13110. eCollection 2021 Jan.
Ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha-fetoprotein and negative genetic test may direct to alternative diagnosis with similar phenotypes such as ataxia telangiectasia-like disorders (ATLD).
We report two instructive cases of ATLD: the first case with ataxia telangiectasia-like disorder type 1 related to gene, and the second case with ataxia telangiectasia-like disorder type 2 related to gene.
ATLD is an unusual group of autosomal recessive diseases that share some clinical features and pathophysiological mechanisms with ataxia telangiectasia (AT). ATLD may be associated with mutations in the (ATLD type 1) and (ATLD type 2) genes. ATLD belongs to the group of chromosomal instability syndromes. The reason for the term ATLD is related to the similar pathophysiological mechanisms observed in AT, which is characterized by chromosomal instability and radiosensitivity.
In this review, the main clinical features, biomarkers, brain imaging and genetics of ATLD are discussed. Mutations in the and genes should be included in the differential diagnosis for early onset cerebellar ataxia with absence of telangiectasia and normal levels of alpha-fetoprotein.
共济失调毛细血管扩张症是常染色体隐性小脑共济失调最常见的病因之一。然而，无毛细血管扩张、甲胎蛋白水平正常以及基因检测呈阴性可能会指向具有类似表型的其他诊断，如共济失调毛细血管扩张症样疾病（ATLD）。
我们报告两例具有指导意义的ATLD病例：第一例为与 基因相关的1型共济失调毛细血管扩张症样疾病，第二例为与 基因相关的2型共济失调毛细血管扩张症样疾病。
ATLD是一组不常见的常染色体隐性疾病，与共济失调毛细血管扩张症（AT）具有一些临床特征和病理生理机制。ATLD可能与 （1型ATLD）和 （2型ATLD）基因的突变有关。ATLD属于染色体不稳定综合征组。术语ATLD的原因与在AT中观察到的类似病理生理机制有关，其特征为染色体不稳定和放射敏感性。
在本综述中，讨论了ATLD的主要临床特征、生物标志物、脑成像和遗传学。对于无毛细血管扩张且甲胎蛋白水平正常的早发性小脑共济失调，在鉴别诊断中应考虑 和 基因的突变。
