hereditary spastic paraplegia 51

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Disease Overview

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.


Synonyms

  • AP4E1 hereditary spastic paraplegia
  • CPSQ4
  • SPG51
  • Spastic Paraplegia 51
  • autosomal dominant spastic paraplegia 51
  • cerebral palsy, spastic quadriplegic, 4
  • cerebral palsy, spastic quadriplegic, 4, formerly
  • hereditary spastic paraplegia caused by mutation in AP4E1
  • hereditary spastic paraplegia type 51
  • spastic paraplegia 51, autosomal recessive
  • spastic quadriplegic cerebral palsy 4

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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National Organization for Rare Disorders