Publications by authors named "Paula Camila Alves de Assis Pereira Matos"
Background: Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in XRCC1 have been found to cause autosomal recessive spinocerebellar ataxia-26 (SCAR26) now considered AOA5.
View Article and Find Full Text PDFBackground: 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 gene, and the second case with ataxia telangiectasia-like disorder type 2 related to gene.