Sindrome 18q- con carenza di myelin basic protein (MBP).

Translated title of the contribution: 18q syndrome with deficiency of myelin basic protein (MBP)

A. Iester, S. Vignola, L. Callegarini, G. Gimelli, M. G. Alpigiani

Research output: Contribution to journalArticlepeer-review

Abstract

The Authors present a patient with 18q- Syndrome in which lymphatic cell karyotype could resume development of extrapyramidal degeneration signs before they appeared. Severity range of phenotypic manifestations in the 18q- syndrome is correlated with chromosomic breakpoint and with genetic background. Many chromosome 18's distal arm genes have been mapped Myelin Basic Protein gene (MBP) has been located in 22-23 position; it forms about 30-40% of myelinic sheath proteins. Failure in MBP gene expression would be correlated in the central white matter with extrapyramidal system degeneration signs: in 18q- patients with involuntary movements studied by MRI or by post-mortem autopsy unmyelinated areas in central white matter tracts have been put in evidence. As MBP absence in peripheral nervous system does not appear to have a functional effect, it has been suggested that some specific component of peripheral myelin is functionally equivalent to MBP and capable to substitute this protein in its absence.

Translated title of the contribution18q syndrome with deficiency of myelin basic protein (MBP)
Original languageItalian
Pages (from-to)201-205
Number of pages5
JournalPediatria Medica e Chirurgica
Volume18
Issue number2
Publication statusPublished - Mar 1996

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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