GTR Home > Conditions/Phenotypes > Pelizaeus-Merzbacher disease

Summary

Excerpted from the GeneReview: PLP1-Related Disorders
PLP1-related disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Female carriers may manifest mild to moderate signs of the disease.

Genes See tests for all associated and related genes

  • Also known as: GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2, PLP1
    Summary: proteolipid protein 1

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