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Nervous System Diseases > Demyelinating Diseases > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Leukoencephalopathies > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Pelizaeus-Merzbacher Disease

Preferred term

Pelizaeus-Merzbacher Disease  

Type

  • mesh:Descriptor

Definition

  • 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)

Broader concept

Related concepts

Entry terms

  • Leukodystrophy, Hypomyelinating, 1
  • Pelizaeus-Merzbacher Brain Sclerosis
  • Pelizaeus-Merzbacher Sclerosis, Brain

Allowable Qualifier(s)

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URI

http://data.loterre.fr/ark:/67375/JVR-DQKZFXBR-N

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