Ataxia with Oculomotor Apraxia Type 1 Presenting in a 5-Year Old Child: Diagnostic and Clinical Considerations
Noura Agarrab, Azzeddine Laaraje, Radi Abdelilah, Soukaina Ait Hmadouch, Amal Hassani & Rachid Abilkassem · Asian Journal of Pediatric Research · 2025
Ataxia with oculomotor apraxia type 1 (AOA1) is a rare neurodegenerative disease with autosomal recessive inheritance, caused by mutations in the APTX gene encoding aprataxin, a protein involved in DNA repair. We report the case of a 5-year-old child born to consanguineous parent...
Open access
Research Article
10.9734/ajpr/2025/v15i6456