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hereditary spastic paraplegia 18

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Disease Overview

A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

Synonyms

  • ERLIN2 autosomal recessive complex spastic paraplegia
  • SPG18
  • autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2
  • autosomal recessive spastic paraplegia 18
  • autosomal recessive spastic paraplegia type 18
  • hereditary spastic paraplegia type 18
  • intellectual disability, motor dysfunction and joint contractures
  • intellectual disability, motor dysfunction, and Joint contractures
  • spastic paraplegia 18
  • spastic paraplegia 18, autosomal recessive
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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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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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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