Myelin deficiency in female rats due to a mutation in the PLP gene

Koeppen, Arnulf H.; Csiza, C. K.; Willey, Ann M.; Rønne, Mogens; Barron, Kevin D.; Dearborn, Richard E.; Hurwitz, Craig G.

doi:10.1016/0022-510x(92)90212-4

Cited by 4 publications

(3 citation statements)

References 41 publications

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“…The example of the XO female md rat [45] was noted above. Not all affected females have been karyotyped, but of those who have, no Turner syndrome or other abnormality has been reported.…”

Section: Inheritance Patternsmentioning

confidence: 99%

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Genetics of Pelizaeus-Merzbacher Disease

Hodes

Pratt

Dlouhy³

1993

Dev Neurosci

125

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Pelizaeus-Merzbacher disease (PMD) has been recognized as a clinical entity for more than a century. It has gradually become apparent that the disorder is a dysmyelination, in distinction to demyelinating conditions such as adrenoleukodystrophy. The failure to deposit myelin is due to decreased production of its chief protein, proteolipid protein (PLP). In about 30% of patients with the diagnosis of PMD there is a mutation in the coding portion of the proteolipid protein gene, PLP This gene is located at Xq22 so the disease in these families shows an X-linked pattern of inheritance. The expression of the mutant gene is generally recessive, but some mutations are expressed frequently in females. At least some patients with PMD that do not show mutations in the coding region of PLP demonstrate linkage between the disease and PLP. As additional mutations in PLP are discovered, it is becoming apparent that the nosology of PLP-associated disease is changing. PMD now comprises a spectrum of disorders with similar but not necessarily identical clinical pictures. Some of these disorders may be certain forms of X-linked paraplegia, SPG2. Finally, some diseases that look like PMD may not be X-linked.

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“…The example of the XO female md rat [45] was noted above. Not all affected females have been karyotyped, but of those who have, no Turner syndrome or other abnormality has been reported.…”

Section: Inheritance Patternsmentioning

confidence: 99%

“…Last year, the paralytic tremor (pi) rabbit was described by Tosic et al [44], While not yet proved, this mutation is apparently a defect in pip (the animal equiv alent of PLP). Of particular interest is the md nit, because the female affecteds are of chromosomal com position XO [45].…”

Section: Pathology Of Pmdmentioning

confidence: 99%

Genetics of Pelizaeus-Merzbacher Disease

Hodes

Pratt

Dlouhy³

1993

Dev Neurosci

125

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“…Since PLP and PMP22 also exhibit reciprocal expression patterns in CNS and PNS myelin, the two proteins have been suggested to serve similar functions . Just as PMP22 mutations lead to inherited peripheral neuropathies, mutations in the X-linked PLP gene are responsible for the CNS myelin deficiencies observed in the jimpy and the rumpshaker mouse mutants (Schneider et al, 1992), the md-rat (Koeppen et al, 1992), the human myelin disorder Pelizaeus-Merzbacher disease (PMD) (Hudson et al, 1989), and X-linked spastic paraplegia (Saugier-Veber et al, 1994). That PLP is sensitive to gene dosage was first suggested by the discovery of a PLP gene duplication in a patient with a generalized myelin disorder (Cremers et al, 1987).…”

Section: Hypothetical Function Of Pmp22mentioning

confidence: 99%

Peripheral myelin protein 22: Facts and hypotheses

Suter

Snipes

1995

J of Neuroscience Research

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Mutations affecting the peripheral myelin protein 22 (PMP22) gene are associated with inherited motor and sensory neuropathies in mouse (Trembler and Trembler-J) and human (Charcot-Marie-Tooth disease type 1A and Dejerine-Sottas syndrome). Although genetic studies have established a critical role of PMP22 in the formation and/or maintenance of myelin in the peripheral nervous system, the biological function of PMP22 in myelin and in non-myelin forming cells remains largely enigmatic. In this Mini-Review, we will summarize the current knowledge about PMP22 and discuss its hypothetical function(s) in a broad context.

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Girl with signs of Pelizaeus‐Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene

et al. 1995

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We studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C41-->T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the proposita currently are neurologically normal and show normal T2 magnetic resonance imaging (MRI) of the brain, the infant has a neurological picture, MRIs, and brain auditory evoked response (BAER) consistent with that diagnosis. The data here presented show that PMD can occur in females carrying a mutation in the PLP gene. Our experience with the MRIs of this patient, her mother and grandmother, and those of a previously reported family [Pratt et al.: Am J Med Genet 38:136-139, 1991] show that molecular genetic analysis and not MRI is the appropriate means for carrier detection.

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Myelin deficiency in female rats due to a mutation in the PLP gene

Cited by 4 publications

References 41 publications

Genetics of Pelizaeus-Merzbacher Disease

Genetics of Pelizaeus-Merzbacher Disease

Peripheral myelin protein 22: Facts and hypotheses

Girl with signs of Pelizaeus‐Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene

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