Soukaina Ait Hmadouch

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...