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

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
Source :
Movement Disorders Clinical Practice; Jan2021, Vol. 8 Issue 1, p118-125, 8p
Publication Year :
2021

Abstract

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 [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
23301619
Volume :
8
Issue :
1
Database :
Complementary Index
Journal :
Movement Disorders Clinical Practice
Publication Type :
Academic Journal
Accession number :
147905725
Full Text :
https://doi.org/10.1002/mdc3.13110