A rare case: spastic quadriplegia in a teenager with a SPAST variant

A plain-language summary of a published scientific study. It is educational and does not replace medical advice.

The study: Kostopoulou E et al., Case Reports in Neurological Medicine, published online 29 April 2026[1]. A case report. Free full text.

What happened

Variants in the SPAST gene usually cause SPG4, with leg stiffness that gradually worsens. Severe forms affecting the nervous system more widely are rare[1].

The authors describe a teenager with a rare SPAST variant (p.Arg503Trp) and spastic quadriplegia, meaning stiffness and weakness in all four limbs. He also had severe intellectual disability, no speech, swallowing difficulties and epilepsy[1]. He had been born prematurely, at 32 weeks, after a pregnancy with complications[1].

What the doctors found

• Until then, his problems had been put down to a lack of oxygen at birth[1].
• The genetic test gave a more precise and more satisfactory diagnosis[1].
• The authors consider it the first reported case of a SPAST variant with quadriplegia and one of the most severe pictures linked to this gene[1].

What it means for families

• Genetic testing can change a diagnosis made years earlier. The authors recommend considering SPAST in children with unusual or severe presentations too[1].
• A genetic diagnosis allows a more accurate prognosis, tailored care and appropriate genetic counselling for the family[1].
• The case is exceptional: it does not describe the usual course of SPG4.

What the study does not tell us yet

As a single case, the finding needs to be confirmed in other patients with the same variant.