Pelizaeus-Merzbacher disease
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Related to Pelizaeus-Merzbacher disease: Alexander disease, PLP1
Pe·li·zae·us-·Merz·bach·er dis·ease
(pā-lē-tsā'ūs merts'bah-kĕr), [MIM*311601, *312080, *260600]a sudanophilic leukodystrophy with a tigroid appearance of the myelin resulting from patchy demyelination. Type 1, classic, nystagmus and tremor appearing in the first few months of life, followed by slow motor development sometimes with choreoathetosis, spasticity, optic atrophy and seizures, with death in early adulthood, X-linked recessive inheritance caused by mutation in the proteolipid protein gene (PLP) on Xq; there is an autosomal recessive form as well; type 2, contralateral form with death in months to years after birth, X-linked recessive inheritance; type 3, transitional, with death in the first decade; type 4, adult form associated with involuntary movements, ataxia, and hyperreflexia, but without nystagmus; autosomal dominant inheritance [MIM*169500]; type 5, variant forms. Cockayne is sometimes included as a sixth form.
Synonym(s): Merzbacher-Pelizaeus disease
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Pelizaeus-Merzbacher disease
(pĕl′ĭ-zā′əs-mûrts′băk′ər, pā′lē-tsā′o͝os-mĕrts′bäKH′ər)n.
An X-linked recessive disorder of myelin formation, characterized by nystagmus, ataxia, spasticity, and developmental delay.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
Merzbacher,
Ludwig, German physician in Argentina, 1875-1942.Merzbacher-Pelizaeus disease - Synonym(s): Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease - see under Pelizaeus
Pelizaeus,
Friedrich, German neurologist, 1850-1917.Merzbacher-Pelizaeus disease - Synonym(s): Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease - a sudanophilic leukodystrophy with a tigroid appearance of the myelin resulting from patchy demyelination. Synonym(s): Merzbacher-Pelizaeus disease
Medical Eponyms © Farlex 2012