Neurological and neuropsychological correlates of Klippel-Feil syndrome

GDF6, a gene associated with KFS, plays a role in retinotectal mapping, which organizes visual stimuli in the brain. Early neurodevelopment abnormalities, such as atlanto-occipital anomalies in KFS, might affect related brain structures, which could explain the patient's impaired visuospatial function. In addition, compensatory neuroplasticity underscores how the brain may adapt to congenital defects, even severe ones.

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Publication Details

Journal
Neurological Sciences
Published
2025-09-18
DOI
https://doi.org/10.1007/s10072-025-08454-7
Primary Topic
Spinal Fractures and Fixation Techniques
Type
article
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article

Neurological and neuropsychological correlates of Klippel-Feil syndrome

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Neurological Sciences
Spinal Fractures and Fixation Techniques
article

Neurological and neuropsychological correlates of Klippel-Feil syndrome

Loris Di Clemente, Stefano Luca Sensi, Astrid Thomas, Mirella Russo, Dario Calisi, Valentina Panara, Sara Melchiorre, Matteo Santilli, Gaetano Polito, Consuelo Ciprietti
article en

Abstract

GDF6, a gene associated with KFS, plays a role in retinotectal mapping, which organizes visual stimuli in the brain. Early neurodevelopment abnormalities, such as atlanto-occipital anomalies in KFS, might affect related brain structures, which could explain the patient's impaired visuospatial function. In addition, compensatory neuroplasticity underscores how the brain may adapt to congenital defects, even severe ones.

Neurological SciencesVol. 46(11)
University of Chieti-Pescara (IT)
Openalex Percentile: Top 59%
Spinal Fractures and Fixation Techniques
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