Merzbacher-Pelizaeus disease


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Related to Merzbacher-Pelizaeus disease: Alexander disease, Canavan disease

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.

Merzbacher-Pelizaeus disease

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