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

Pelizaeus-Merzbacher disease

(pĕl′ĭ-zā′əs-mûrts′băk′ər, pā′lē-tsā′o͝os-mĕrts′bäKH′ər)

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

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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.

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease/Heterogeneidad clinica y mutacional en pacientes colombianos con Pelizaeus Merzbacher

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

Explaining the genetics behind rare neurological diseases: new drug screening platform for neurological therapeutic development

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.

Search and Respond

(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.

Pelizaeus-Merzbacher study data suggest "departure from natural history of the 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."

Phase 1 stem cell trial in nerve cell disease demonstrates safety, myelination

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).

Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein I gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease

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).

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(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).