Pelizaeus-Merzbacher Disease

A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)
Also Known As:
Adult Pelizaeus-Merzbacher Disease; Atypical Pelizaeus-Merzbacher Disease; Classic Pelizaeus-Merzbacher Disease; Pelizaeus-Merzbacher Disease, Adult; Pelizaeus-Merzbacher Disease, Atypical; Pelizaeus-Merzbacher Disease, Classic; Pelizaeus-Merzbacher Disease, Transitional; Transitional Pelizaeus-Merzbacher Disease; Adult Pelizaeus Merzbacher Disease; Adult Pelizaeus-Merzbacher Diseases; Atypical Pelizaeus Merzbacher Disease; Atypical Pelizaeus-Merzbacher Diseases; Classic Pelizaeus Merzbacher Disease; Cockayne Pelizaeus Merzbacher Disease; Diseases, Adult Pelizaeus-Merzbacher; Diseases, Atypical Pelizaeus-Merzbacher; Pelizaeus Merzbacher Disease; Pelizaeus Merzbacher Disease, Adult; Pelizaeus Merzbacher Disease, Atypical; Pelizaeus Merzbacher Disease, Classic; Pelizaeus Merzbacher Disease, Transitional; Pelizaeus-Merzbacher Diseases, Adult; Pelizaeus-Merzbacher Diseases, Atypical; Transitional Pelizaeus Merzbacher Disease; Cockayne-Pelizaeus-Merzbacher Disease
Networked: 88 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1. Paraplegia (Spastic Paraplegia)
2. Leukoencephalopathies
3. Canavan Disease (Leukodystrophy, Spongiform)
4. Hereditary Nephritis (Alport Syndrome)
5. Metachromatic Leukodystrophy (Sulfatide Lipidosis)


1. Nave, Klaus-Armin: 6 articles (08/2015 - 04/2002)
2. Inoue, Ken: 4 articles (04/2014 - 02/2012)
3. Numata, Yurika: 3 articles (04/2014 - 05/2012)
4. Morimura, Toshifumi: 3 articles (04/2014 - 05/2012)
5. Edgar, Julia M: 3 articles (07/2011 - 05/2006)
6. Boespflug-Tanguy, Odile: 3 articles (01/2011 - 01/2006)
7. Takanashi, Jun-ichi: 2 articles (01/2015 - 02/2012)
8. Hirano, Eriko: 2 articles (04/2014 - 03/2013)
9. Nakamura, Shoko: 2 articles (04/2014 - 03/2013)
10. Henneke, Marco: 2 articles (12/2012 - 07/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pelizaeus-Merzbacher Disease:
1. Myelin Proteolipid ProteinIBA
2. DNA (Deoxyribonucleic Acid)IBA
3. Biological Markers (Surrogate Marker)IBA
4. Staphylococcal Protein A (A, Protein)IBA
5. lamin B1IBA
6. Protons (Proton)IBA
7. Proteins (Proteins, Gene)IBA
8. Myelin ProteinsIBA
9. Choline (Choline Chloride)IBA
10. Bruton type agammaglobulinemiaIBA

Therapies and Procedures

1. Transplantation (Transplant Recipients)
2. Ligation
3. Catheters
4. Transplants (Transplant)
5. Tracheostomy