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.

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.

Pelizaeus-Merzbacher disease

[pā′lētsā′o̅o̅s·merts′bä·kər]
Etymology: Friedrich Pelizaeus, German physician, 1850-1917; Ludwig Merzbacher, German physician, 1875-1942
an X-linked leukoencephalopathy 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 that may involve the brainstem, cerebellum, and spinal cord. There is no cure. Treatment is symptomatic and supportive. Also called familial centrolobar sclerosis, Merzbacher-Pelizaeus disease, Pelizaeus-Merzbacher sclerosis.

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
References in periodicals archive ?
Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
Complete deletion of the proteolipid protein gene (PLP1) in a family with X-linked Pelizaeus-Merzbacher disease.
Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease.
Food and Drug Administration to initiate a Phase I clinical trial of HuCNS-SC cells in Pelizaeus-Merzbacher Disease (PMD), a fatal brain disorder that primarily affects young children.
When a DNA addition or deletion occurs in the wrong place, a genomic-based disorder like Pelizaeus-Merzbacher disease (PMD) can occur.