| 释义 |
DictionarySeediseasePelizaeus-Merzbacher 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. Synonym(s): Merzbacher-Pelizaeus diseasePelizaeus-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.Merzbacher, Ludwig, German physician in Argentina, 1875-1942. Merzbacher-Pelizaeus disease - Synonym(s): Pelizaeus-Merzbacher diseasePelizaeus-Merzbacher disease - see under Pelizaeus
Pelizaeus, Friedrich, German neurologist, 1850-1917. Merzbacher-Pelizaeus disease - Synonym(s): Pelizaeus-Merzbacher diseasePelizaeus-Merzbacher disease - a sudanophilic leukodystrophy with a tigroid appearance of the myelin resulting from patchy demyelination. Synonym(s): Merzbacher-Pelizaeus diseaseAcronymsSeeparamedic |