Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.

Abstract

Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are two sides of the same coin. Both arise from mutations in the gene encoding myelin proteolipid protein. The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the pure form of spastic paraplegia type 2 to a severely disabling form of Pelizaeus-Merzbacher disease featuring hypotonia, respiratory distress, stridor, nystagmus, and profound myelin loss. The diverse disease spectrum is mirrored by the underlying pathogenesis, in which a blockade at any stage of myelin proteolipid protein synthesis and assembly into myelin spawns a unique phenotype. The continuing definition of pathogenetic mechanisms operative in Pelizaeus-Merzbacher disease and spastic paraplegia type 2, together with advances in neural cell transplant therapy, augurs well for future treatment of the severe forms of Pelizaeus-Merzbacher disease.

• Authors: Lynn D Hudson
• Journal: Journal of child neurology (J Child Neurol) Vol. 18 Issue 9 Pg. 616-24 (Sep 2003) ISSN: 0883-0738 [Print] United States
• PMID: 14572140 (Publication Type: Journal Article, Review)

Chemical References

• Myelin Proteolipid Protein

Topics

• Alleles
• Animals
• Demyelinating Diseases
• Gene Expression Regulation
• Heterozygote
• Humans
• Mutation
• Myelin Proteolipid Protein (genetics)
• Myelin Sheath (pathology)
• Paraplegia (genetics)
• Pelizaeus-Merzbacher Disease (genetics)