Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?

Boltshauser, Eugen; Schinzel, Albert; Wichmann, W.; Haller, Dieter; Valavanis, Anton

doi:10.1007/bf00273659

Cited by 23 publications

(8 citation statements)

References 10 publications

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“…Likewise, a tentative diagnosis of PMD was made in our patient given the signs of hypomyelination detected on brain MRI and the altered pattern of the auditory brain evoked potentials. Although minor neurological and imaging signs are reported in obligate carriers for PMD [Boltshauser et al, 1988;Huygen et al, 1992], the disease is known to affect exclusively males. About 25% of patients show point mutations in the PLP protein, mapped to Xq22.…”

Section: Discussionmentioning

confidence: 98%

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation

et al. 1997

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We report on an 18-month-old girl with multiple congenital anomalies (prominence of the metopic suture, fine hair, club foot, absence of the 12th rib, brachydactyly) and severe mental retardation. The funduscopic examination showed diffuse retinal hypopigmentation. Brain magnetic resonance image (MRI) showed signs of diffuse hypomyelination. On cytogenetic and molecular evidence, the karyotype was 46,X,dirdup(X) (pter-->q24::q21.32-->qter). The duplication of the PLP gene, involved in Pelizaeus-Merzbacher disease, was confirmed by fluorescent in situ hybridization (FISH). Both cytogenetic and molecular studies on the X chromosome inactivation status indicated a random pattern in lymphocytes and fibroblasts. This patient appears to be the first case of a female bearing a large duplication of Xq with a random X inactivation. The phenotype of this patient is compared to that of previously reported cases with Xq duplication.

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Section: Discussionmentioning

confidence: 98%

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation

et al. 1997

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“…MR findings in PMD and other leukodystrophies have recently been reported [8][9][10][11][12]. Four patients with PMD, ages 7 to 18, demonstrated increased peripheral white matter signal compared with gray matter on T2-weighted images, which is the reverse of the normal relationship at these ages, as well as decreased signal intensity in the basal ganglia.…”

Section: Discussionmentioning

confidence: 93%

Pelizaeus-Merzbacher Disease

Singh

Samanta

2008

Encyclopedia of Genetics, Genomics, Proteomics and Informatics

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MR imaging was performed in five members of a fam ily afflicted with Pelizaeus-Merzbacher disease. The individuals imaged included a male proband, his mother, and three maternal uncles. Clinically affected members showed generalized white matter signal aberration consistent with dys-and demyelination, basal ganglia , and thalamic signal aberration suggestive of pathologic iron storage and diffuse brain atrophy. These findings are similar to those seen in other leukodystrophies. The proband 's mother was normal by neurologic examination but showed a suspicious but not definitely abnormal similar pattern of basal ganglionic and white matter signal aberration. In our limited patient sample, MR appears to be able to: (1) demonstrate a pattern of imaging abnormalities characteristic of Pelizaeus-Merzbacher disease (we do not know if this pattern is specific); (2) potentially detect the obligate carrier state; and (3) detect the facultative carrier state.

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“…The former made increasingly probable the antemortem detection of leukodystrophy in general, while our study [Trofatter et al, 19891 showed that at least one mutation in PLP was tightly linked to, if not causative of, PMD. MRI was also suggested as a method for carrier detection by Boltshauser et al [1988], but disclosure of the mutation in that family by ourselves [Pratt et al, 19911 and Weimbs et al [1990] showed that a genetically normal female had been misidentified as a carrier by MRI. Even the detection of mutation(s) in the exons ofPLP is useful only in those families, perhaps one third of those diagnosed clinically, in which such a mutation is found in PLP.…”

Section: Discussionmentioning

confidence: 98%

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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Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?

Cited by 23 publications

References 10 publications

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation

Pelizaeus-Merzbacher Disease

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

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