Hereditary spastic paraplegia 47

MONDO:0013551

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.

Also known as: AP4B1 hereditary spastic paraplegia, SPG47, Spastic Paraplegia 47, hereditary spastic paraplegia 47, hereditary spastic paraplegia caused by mutation in AP4B1, hereditary spastic paraplegia type 47, cerebral palsy, spastic quadriplegic, 5, cerebral palsy, spastic quadriplegic, 5, formerly

3 clinical trials for this condition and its sub-types, 1 tagged with Hereditary spastic paraplegia 47 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 47 (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 47

Where it sits in the disease tree

Scientists launch major effort to track rare nerve disease in children