RGD Reference Report - Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. - Rat Genome Database

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

Authors: Hudson, LD 
Citation: Hudson LD J Child Neurol 2003 Sep;18(9):616-24.
RGD ID: 1358783
Pubmed: PMID:14572140   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Pelizaeus-Merzbacher disease  TAS 1358783 RGD 
Pelizaeus-Merzbacher disease  ISOPLP1 (Homo sapiens)1358783 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Plp1  (proteolipid protein 1)

Genes (Homo sapiens)
PLP1  (proteolipid protein 1)


Additional Information