Hereditary spastic paraplegia 52

MONDO:0013552

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.

Also known as: AP4S1 hereditary spastic paraplegia, SPG52, Spastic Paraplegia 52, hereditary spastic paraplegia 52, hereditary spastic paraplegia caused by mutation in AP4S1, hereditary spastic paraplegia type 52, cerebral palsy, spastic quadriplegic, 6, cerebral palsy, spastic quadriplegic, 6, formerly

3 clinical trials for this condition and its sub-types, 1 tagged with Hereditary spastic paraplegia 52 itself.

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Where it sits in the disease tree

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↑ Hereditary spastic paraplegia (33) ↑ AP-4 deficiency syndrome (3)

Including sub-types (3) Tagged with Hereditary spastic paraplegia 52 (1)

Trials to join now! 1

Scientists launch major effort to track rare nerve disease in children

Knowledge-focused Recruiting now

This study collects health information and biological samples from up to 700 people under 30 with early-onset hereditary spastic paraplegia (HSP). Researchers aim to better understand how the disease progresses over time and create a registry for future studies. Participants prov…

Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

Last updated Jun 27, 2026 11:02 UTC

Hereditary spastic paraplegia 52

Where it sits in the disease tree

Scientists launch major effort to track rare nerve disease in children