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.

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 ?
A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nat Genet.
Variation in PLP gene duplications causing Pelizaeus-Merzbacher disease. Am J Hum Genet.
Nevin et al., "Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes," The American Journal of Human Genetics, 2017; DOI: 10.1016/j.ajhg.2017.03.005
R Tina (September 2001) has a 2-year-old son with Pelizaeus-Merzbacher disease (a rare inherited disease of the central nervous system associated with progressive deterioration of the white matter of the brain) whose head sweats profusely at night, interrupting his sleep.
(STEM) presented data recently showing significant improvements two years after transplantation of HuCNS-SC cells (purified human neural stem cells) into patients with Pelizaeus-Merzbacher disease.
"The safety and clinical outcomes a year after transplantation, combined with durable radiological signals of myelin formation, provide objective evidence of a biological effect of HuCNS-SC transplantation that addresses the fundamental basis of the pathology in the brain of Pelizaeus-Merzbacher disease (PMD) patients."
Pelizaeus-Merzbacher disease (PMD) (9) and the allelic disorder spastic paraplegia type 2 (SPG2) are rare X-linked recessive dysmyelination disorders caused by sequence variations in the proteolipid protein 1 (PLP1) [10] gene (1-3).
S I have a 2-year-old son with Pelizaeus-Merzbacher disease (a rare inherited disease of the central nervous system associated with progressive deterioration of the white matter of the brain).
(Newark, Calif.), were injected directly into the brains of four young children with an early-onset, fatal form of a condition known as Pelizaeus-Merzbacher disease (PMD).