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August 28, 2025Movement Disorders Clinical Practice

Phenotyping Gaze: Hallmarks of Recessive Ataxia with PNKP Gene Variant

Raissa Josefa Pereira de Moura Dulciene Maria Magalhães Queiroz Renato Adam Mendonça Renata Montes Garcia Barbosa Míriam Carvalho Soares

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Key Points

The case report identifies key phenotypes associated with recessive ataxia due to a PNKP gene variant.
Clinical analysis revealed specific gaze characteristics in the patient, emphasizing the role of genetic variants.
This observational report adheres to ethical principles, including consent from the patient and guardian.
Findings support the identification and understanding of recessive ataxia, calling for further genetic exploration.

Implication

Case report details phenotyping for recessive ataxia caused by PNKP gene variant, highlighting ethical compliance.

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Cite This Study

Moura et al. (2025) studied this question.

synapsesocial.com/papers/68bb3d5b2b87ece8dc95646e https://doi.org/10.1002/mdc3.70277

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