Pelizaeus-Merzbacher-like disease: Exclusion of the proteolipid protein locus and documentation of a new locus on Xq

Alice Lazzarini, K. O. Schwarz, S. Jiang, E. S. Stenroos, T. Lehner, W. G. Johnson

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

A large X-linked kindred with Pelizaeus-Merzbacher-like disease (Pelizaeus-Merzbacher disease [PMD] lacking a proteolipid protein [PLP] mutation) was studied for linkage to 34 X-chromosome short tandem repeat polymorphism markers. Recombinational events excluded linkage to PLP and supported linkage to a 9.4-cM critical region more than 10 cM away from PLP on the X chromosome. A maximum 2-point lod score of 3.91 was observed for DXS441 at θ = 0.0. Neuropathologic study of one affected male showed intact myelin. The data thus support a different etiology for a disease that clinically resembles PMD, distinguishable phenotypically only by degree of myelin involvement. Other patients with the clinical diagnosis of PMD but without PLP mutations could have mutations at this new locus.

Original languageEnglish (US)
Pages (from-to)824-832
Number of pages9
JournalNeurology
Volume49
Issue number3
DOIs
StatePublished - Sep 1997

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

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