2022
DOI: 10.1002/mds.29015
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Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia

Abstract: 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 frequencie… Show more

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Cited by 2 publications
(2 citation statements)
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“…Much of the current literature has focused on alexia and homonymous hemianopia; however, reading deficits may also occur due to abnormalities in the visual and oculomotor systems (Wolter & Preda, 2006). These abnormalities of the visual and oculomotor systems have the potential to influence the planning and execution of saccades, systematic scanning, and place holding necessary for connected text reading, as well as local eye movement measures such as saccade landing on a word (Afshangian et al, 2017; da Costa et al, 2022; O’Regan et al, 1984; O’Regan & Jacobs, 1992).…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Much of the current literature has focused on alexia and homonymous hemianopia; however, reading deficits may also occur due to abnormalities in the visual and oculomotor systems (Wolter & Preda, 2006). These abnormalities of the visual and oculomotor systems have the potential to influence the planning and execution of saccades, systematic scanning, and place holding necessary for connected text reading, as well as local eye movement measures such as saccade landing on a word (Afshangian et al, 2017; da Costa et al, 2022; O’Regan et al, 1984; O’Regan & Jacobs, 1992).…”
Section: Discussionmentioning
confidence: 99%
“…This deficiency can be involved voluntary, horizontal, lateral, and fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements on reading and sight (da Costa et al, 2022). One of the effects of OMA is reading difficulty (Bhola, 2006).…”
Section: Introductionmentioning
confidence: 99%