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Understanding the ARX Gene Duplication: A Developmental Model for Limb Kinetic Apraxia

Understanding the ARX Gene Duplication: A Developmental Model for Limb Kinetic Apraxia

Exploring the ARX Gene Duplication: Insights for Practitioners

The c.429_452 duplication of the ARX gene is a rare genetic anomaly that has significant implications for understanding X-linked intellectual disability (XLID) and limb kinetic apraxia. This blog aims to provide practitioners with insights from recent research and encourage further exploration into this unique developmental model.

Understanding the Research

The study conducted by Curie et al. (2014) focused on 27 patients from 12 different families in France who were affected by the c.429_452dup24 mutation in the ARX gene. This mutation is associated with a recognizable clinical syndrome characterized by intellectual disability without primary motor impairment, but with specific upper limb distal motor apraxia.

The research highlighted that patients exhibited a pathognomonic hand-grip and a unique "reach and grip" impairment not observed in age- and IQ-matched Down syndrome patients. The kinematic data revealed significant impairments in finger dexterity and coordination, particularly affecting the fourth finger and pronation movements.

Practical Applications for Practitioners

For practitioners working with individuals affected by this mutation, the findings offer several practical applications:

Encouraging Further Research

The study opens up avenues for further research into the developmental aspects of limb kinetic apraxia. Researchers are encouraged to explore:

By delving deeper into these areas, researchers can contribute to a more comprehensive understanding of ARX-related conditions and improve outcomes for affected individuals.

To read the original research paper, please follow this link: The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.


Citation: Curie, A., Nazir, T., Brun, A., Paulignan, Y., Reboul, A., Delange, K., Cheylus, A., Bertrand, S., Rochefort, F., Bussy, G., Marignier, S., Lacombe, D., Chiron, C., Cossée, M., Leheup, B., Philippe, C., Laugel, V., De Saint Martin, A., Sacco, S., Poirier, K., Bienvenu, T., Souville, I., Gilbert-Dussardier, B., Bieth, E., Kauffmann, D., Briot, P., de Fréminville, B., Prieur, F., Till, M., Rooryck-Thambo, C., Mortemousque, I., Bobillier-Chaumont, I., Toutain, A., Touraine, R., Sanlaville, D., Chelly, J., Freeman, S., Kong, J., Hadjikhani, N., Gollub, R.L., Roy, A.C. & des Portes V. (2014). The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/1750-1172-9-25
Marnee Brick, President, TinyEYE Therapy Services

Author's Note: Marnee Brick, TinyEYE President, and her team collaborate to create our blogs. They share their insights and expertise in the field of Speech-Language Pathology, Online Therapy Services and Academic Research.

Connect with Marnee on LinkedIn to stay updated on the latest in Speech-Language Pathology and Online Therapy Services.

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