Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia‐Like Disorders

• Published in: Movement disorders clinical practice (Hoboken, N.J.) Vol. 8; no. 1; pp. 118 - 125
• Main Authors: Raslan, Ivana Rocha, 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
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.01.2021; Wiley Subscription Services, Inc
• Subjects: Ataxia; ataxia telangiectasia, ataxia telangiectasia‐like disorders, ATLD, MRE11A gene mutations, PCNA gene mutations; Case Series with Literature Review; Case Series with Literature Reviews; Genes; Mutation; ataxia telangiectasia, ataxia telangiectasia‐like disorders, ATLD, MRE11A gene mutations, PCNA gene mutations
• ISSN: 2330-1619; 2330-1619
• DOI: 10.1002/mdc3.13110

Background 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). Cases We report two instructive cases of ATLD: the first case with ataxia telangiectasia‐like disorder type 1 related to MRE11A gene, and the second case with ataxia telangiectasia‐like disorder type 2 related to PCNA gene. Literature Review 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 MRE11A (ATLD type 1) and PCNA (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. Conclusions In this review, the main clinical features, biomarkers, brain imaging and genetics of ATLD are discussed. Mutations in the MRE11A and PCNA genes should be included in the differential diagnosis for early onset cerebellar ataxia with absence of telangiectasia and normal levels of alpha‐fetoprotein. View Supplementary Video 1