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January 1, 2026Case Reports in Neurological MedicineOpen Access

Spastic Quadriplegia Resulting From a Pathogenic Variant in the SPAST Gene: A First Report

Eirini Kostopoulou Maria Lagadinou Ageliki KARATZA Xenophon Sinopidis Rin Khang Gabriel Dimitriou

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Key Points

Identify the link between pathogenic variants in the SPAST gene and severe spastic quadriplegia.
Case presentation of an infant born prematurely at 32 weeks gestation, with reported complications during pregnancy.
Genetic testing performed to confirm mutations in the SPAST gene.
Identification of a pathogenic variant in the SPAST gene in the presented case.
Emphasis on the importance of genetic testing for accurate diagnosis and individualized care.

Implication

Reports genetic basis for spastic quadriplegia in infants, suggesting improved diagnosis and care.

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Cite This Study

Kostopoulou et al. (2026) studied this question.

synapsesocial.com/papers/69f6e5f38071d4f1bdfc699f https://doi.org/10.1155/crnm/2632593

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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