Childhood HSP in Lebanon, Syria and Iraq: why broad genetic testing matters

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

The study: Habanjar D et al., European Journal of Paediatric Neurology, published online 14 July 2026[1]. A retrospective, descriptive review. Only the abstract is freely available.

What the researchers studied

Little is known about children with hereditary spastic paraplegia (HSP) in the Eastern Levant. The authors reviewed the records of children and adolescents seen between 2010 and 2024 at a referral centre who had a variant identified in an HSP gene[1].

What they found

• 21 children. In 19 of them (90.5%), the condition was autosomal recessive, and 71.4% came from families in which the parents were related[1].
• Variants were found in 11 genes, including CYP2U1, SPG11 and the AP-4 complex genes (AP4B1, AP4M1, AP4S1). The SPAST gene, behind SPG4, also appeared[1].
• First symptoms ranged from infancy to late childhood[1].
• At the last check-up, some children walked on their own and others needed walking aids or a carer's support[1].
• There were both pure and complex forms, with intellectual disability, ataxia or seizures[1].

What it means for families

• In an autosomal recessive condition, both parents are healthy carriers, and each child has a 25% chance of inheriting both altered copies[2].
• AP4M1 is the gene behind SPG50, a form that differs from SPG4 and begins in childhood[3].
• The authors highlight the value of broad genetic testing in populations where marriage between relatives is common[1].

What the study does not tell us yet

This is a small group from a single referral centre, and the data are descriptive only. The proportions do not apply to other populations.