Literature DB >> 3198119

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

E Boltshauser1, A Schinzel, W Wichmann, D Haller, A Valavanis.   

Abstract

We report magnetic resonance imaging (MRI) findings in two obligate and four facultative carriers for the "classical" X-linked form of Pelizaeus-Merzbacher disease (PMD). In T2-weighted images MR revealed bilateral multiple areas with signal hyperintensity in the periventricular and subcortical white matter in five women. Until suitable and closely linked DNA probes are found for heterozygote determination, MRI may represent a suitable means for carrier detection in individuals at risk in PMD families.

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Year:  1988        PMID： 3198119     DOI： 10.1007/bf00273659

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  11 in total

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

Authors:  E Boltshauser; A Schinzel; W Wichmann; D Haller; A Valavanis
Journal:  Helv Paediatr Acta       Date:  1987

2.  Pelizaeus-Merzbacher disease: clinical and nosological study.

Authors:  J Boulloche; J Aicardi
Journal:  J Child Neurol       Date:  1986-07       Impact factor: 1.987

3.  Amino-acid sequence of human and bovine brain myelin proteolipid protein (lipophilin) is completely conserved.

Authors:  W Stoffel; H Giersiefen; H Hillen; W Schroeder; B Tunggal
Journal:  Biol Chem Hoppe Seyler       Date:  1985-07

4.  Magnetic resonance imaging in Pelizaeus-Merzbacher disease.

Authors:  H Journel; M Roussey; Y Gandon; C Allaire; M Carsin; B le Marec
Journal:  Neuroradiology       Date:  1987       Impact factor: 2.804

5.  Computed tomography in Pelizaeus-Merzbacher disease.

Authors:  A Statz; E Boltshauser; A Schinzel; H Spiess
Journal:  Neuroradiology       Date:  1981       Impact factor: 2.804

6.  Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders.

Authors:  H F Willard; J R Riordan
Journal:  Science       Date:  1985-11-22       Impact factor: 47.728

7.  Individual exons encode the integral membrane domains of human myelin proteolipid protein.

Authors:  H J Diehl; M Schaich; R M Budzinski; W Stoffel
Journal:  Proc Natl Acad Sci U S A       Date:  1986-12       Impact factor: 11.205

8.  Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease.

Authors:  A H Koeppen; N A Ronca; E A Greenfield; M B Hans
Journal:  Ann Neurol       Date:  1987-02       Impact factor: 10.422

9.  The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome.

Authors:  M G Mattei; P M Alliel; A Dautigny; E Passage; D Pham-Dinh; J F Mattei; P Jollès
Journal:  Hum Genet       Date:  1986-04       Impact factor: 4.132

10.  Structure and molecular arrangement of proteolipid protein of central nervous system myelin.

Authors:  W Stoffel; H Hillen; H Giersiefen
Journal:  Proc Natl Acad Sci U S A       Date:  1984-08       Impact factor: 11.205
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  1 in total

1.  Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

Authors:  S Strautnieks; P Rutland; R M Winter; M Baraitser; S Malcolm
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025
  1 in total

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