Pelizaeus-Merzbacher Disease Summary

59 relevant articles (0 outcomes, 4 trials/studies) found for this Disease

Description: 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 Show All >>

Key Drugs and Agents for Pelizaeus-Merzbacher Disease

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Drugs and Important Biological Agents (IBA) related to treatments:

Myelin Proteolipid Protein : 1 study in 11 results : IBA
DNA (Deoxyribonucleic Acid) : 1 study in 3 results : IBA
Biological Markers (Surrogate Marker) : 1 study in 1 result : IBA
Protons (Proton) : 7 results : IBA
Proteins (Proteins, Gene) : 4 results : IBA
Myelin Proteins : 3 results : IBA
Mutant Proteins (Protein, Mutant) : 2 results : IBA
Nonsense Codon (Nonsense Mutation) : 2 results : IBA
Complementary DNA (cDNA) : 2 results : IBA
Messenger RNA (mRNA) : 2 results : IBA

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Diseases Related to Pelizaeus-Merzbacher Disease

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Key Therapies for Pelizaeus-Merzbacher Disease

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