Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia‐Like Disorders
| Autor: | Orlando Graziani Povoas Barsottini, Paula Camila Alves de Assis Pereira Matos, Carolina Sanchez Aranda, José Luiz Pedroso, Juliana Harumi Arita, Karyme Hussein Daghastanli, Vinícius Boaratti Ciarlariello, Ivana Rocha Raslan, Augusto Bragança Reis Rosa |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Ataxia business.industry 030105 genetics & heredity medicine.disease Phenotype Pathophysiology 03 medical and health sciences MRE11A 0302 clinical medicine Case Series with Literature Reviews Neurology Chromosome instability Ataxia-telangiectasia Cancer research Medicine Neurology (clinical) Differential diagnosis medicine.symptom business Telangiectasia 030217 neurology & neurosurgery |
| Zdroj: | Mov Disord Clin Pract |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|