Pelizaeus-Merzbacher disease
- Pelizaeus-Merzbacher disease
Pel·i·zae·us-Merz·bach·er disease .pel-ēt-'sā-əs-'merts-.bäk-ər- n a familial degenerative disease of the central nervous system that is characterized by slowly progressive demyelination of white matter resulting in mental deterioration and the occurrence of various motor disorders (as ataxia and nystagmus)
Pelizaeus Friedrich (1850-1917), and
Merzbacher Ludwig (1875-1942)
German neurologists. In 1885 Pelizaeus described a congenital and familial disease that is due to atrophy of the white matter of the brain and whose characteristics include speech disturbances, loss of coordination, and mental retardation. Merzbacher independently described the same disease in 1908.
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an X-linked leukoencephalopathy caused by mutation of the PLP1 gene (locus: Xq22) gene, which encodes proteolipid protein, occurring in early life and running a slowly progressive course into adolescence or adulthood. It is marked by nystagmus, ataxia, tremor, choreoathetoid movements, parkinsonian facies, dysarthria, and mental deterioration. Pathologically, there is diffuse demyelination in the white substance of the brain, which may involve the brainstem, cerebellum, and spinal cord. Called also Merzbacher-Pelizaeus d. and Pelizaeus-Merzbacher sclerosis.
Medical dictionary.
2011.
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Pelizaeus-Merzbacher disease — Pelizaeus Merzbacher disease. См. болезнь Пелицеуса Мерцбахера. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
Pelizaeus-Merzbacher disease — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29467 ICD10 = ICD10|E|75|2|e|70 ICD9 = ICD9|330.0 ICDO = OMIM = 312080 MedlinePlus = eMedicineSubj = neuro eMedicineTopic = 520 MeshID = D020371Pelizaeus Merzbacher disease (PMD) is a rare… … Wikipedia
Pelizaeus-Merzbacher disease — Dysmyelinating disease resulting from defects in PLP (proteolipid protein) gene. Mouse model is jimpy … Dictionary of molecular biology
Pelizaeus-Merzbacher disease (PMD) — An X linked disorder of the central nervous system (CNS) in which there is loss of myelin (the sheath around the nerve protecting it). PMD affects boys and is characterized by nystagmus (rhythmical oscillation of the eyeballs), psychomotor… … Medical dictionary
Pelizaeus-Merzbacher-Krankheit — Die Pelizaeus Merzbacher Krankheit ist eine seltene angeborene Erkrankung des zentralen Nervensystems. Bei dieser Erkrankung aus Gruppe der Leukodystrophien tritt eine Störung der Myelinisierung auf, durch die eine Vielzahl von Symptomen… … Deutsch Wikipedia
PMD (Pelizaeus-Merzbacher disease) — An X linked disorder of the central nervous system (CNS) in which there is loss of myelin (the sheath around the nerve protecting it). PMD affects boys and is characterized by nystagmus (rhythmical oscillation of the eyeballs), psychomotor… … Medical dictionary
enfermedad de Pelizaeus-Merzbacher — Eng. Pelizaeus Merzbacher disease Leucodistrofia hereditaria progresiva tipo infantil que cursa con movimientos rotatorios de la cabeza y los ojos, espasticidad de miembros, retraso del desarrollo, ataxia cerebelar, demencia, parkinsonismo,… … Diccionario de oftalmología
Disease, Pelizaeus-Merzbacher (PMD) — An X linked disorder of the central nervous system (CNS) in which there is loss of myelin (the sheath around the nerve protecting it). PMD affects boys and is characterized by nystagmus (rhythmical oscillation of the eyeballs), psychomotor… … Medical dictionary
Pelizaeus-Merzbacher sclerosis — see under disease … Medical dictionary
Merzbacher-Pelizaeus disease — Merz·bach·er Pel·i·zae·us disease (mertsґbah ker pa″le tsaґoos) [Ludwig Merzbacher, German physician 1875–1942; Friedrich Pelizaeus, German neurologist, 1850–1917] Pelizaeus Merzbacher disease; see under disease … Medical dictionary
