Xq22   GeneReviews   Google   OMIM   Orphanet   PubMed   Who named it?   [PMLD]

Pelizaeus-Merzbacher disease

*Gene map locus Xq22
PMD
[Clinical features: nystagmus; spastic quadriplegia; ataxia; developmental delay]
[Inheritance: X-linked recessive]

20 images
[ from 1 to 15 ]
1 2 next
MR-Revealed Myelination in the Cerebral Corticospinal Tract as a Marker for Pelizaeus-Merzbacher's Disease with Proteolipid Protein Gene Duplication
MR-Revealed Myelination in the Cerebral Corticospinal Tract as a Marker for Pelizaeus-Merzbacher's Disease with Proteolipid Protein Gene Duplication
MR-Revealed Myelination in the Cerebral Corticospinal Tract as a Marker for Pelizaeus-Merzbacher's Disease with Proteolipid Protein Gene Duplication
American Journal of Neuroradiology
American Journal of Neuroradiology
American Journal of Neuroradiology

Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease
Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease
Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease
American Journal of Neuroradiology
American Journal of Neuroradiology
American Journal of Neuroradiology

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation
Brain
Brain
Brain

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
Brain
eMedicine
eMedicine

Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms
eMedicine
eMedicine
Journal of Medical Genetics

20 images
[ from 1 to 15 ]
1 2 next

Search with keyword(s) Wildcard = *
          


Print this page

Edited by Aldo Campana, March 14, 2010