What question did this study set out to answer?

Identify the link between pathogenic variants in the SPAST gene and severe spastic quadriplegia.

May 3, 2026Case Reports in Neurological Medicine0 citationsOpen Access

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

EKEirini KostopoulouUniversity of Patras MLMaria LagadinouUniversity of Patras AKAgeliki KARATZAUniversity of Patras

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.

Abstract

Background: ), a neurodegenerative disorder presenting with progressive lower limb spasticity. Severe phenotypes involving more extensive neurological impairment are rare. Case Presentation: mutations. He was born prematurely at 32 weeks of gestation after a complicated antenatal period due to the development of preeclampsia at 23 weeks and gestational diabetes mellitus at 26 weeks. Discussion: -related disease and highlights the role of genetic testing in the diagnostic workup of complex neurological conditions. Conclusion: mutations in patients with atypical or severe neurodevelopmental presentations. Genetic diagnosis enables more accurate prognosis, individualized medical care, and appropriate genetic counseling for families.

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