Authors
Sophia Caldas Gonzaga da Costa, Flávio Moura Rezende Filho, Júlian Leticia de Freitas, Paula Camila Alves de Assis Pereira Matos, Bruno Della‐Ripa, Marcondes Cavalcante França Jr, Wilson Marques, Mariana Santos, Igor Vasconcelos Barros Cronemberger, Thiago Cardoso Vale, Fernando Kok, Isabel Alonso, José Luiz Pedroso, Orlando GP Barsottini
Publication date
2022/6
Journal
Movement Disorders
Volume
37
Issue
6
Pages
1309-1316
Publisher
John Wiley & Sons, Inc.
Description
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.
OBJECTIVES
To examine a cohort of Brazilians with autosomal recessive cerebellar ataxia plus oculomotor apraxia and determine the frequencies of AOA subtypes through genetic investigation.
METHODS
We evaluated clinical, biomarkers, electrophysiological, and radiological findings of 52 patients with AOA phenotype and performed a genetic panel including APTX, SETX, PIK3R5, PNKP, and XRCC1.
RESULTS
We found pathogenic variants in SETX (15 patients), PNKP (12), and APTX (5). No mutations in …
Total citations
Scholar articles
SCG da Costa, FM Rezende Filho, JL de Freitas… - Movement Disorders, 2022