[18q syndrome with deficiency of myelin basic protein (MBP)].
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.
Iester
A
A
1a Clinica Pediatrica dell'Università, Istituto G. Gaslini di Genova, Italia.
Vignola
S
S
Callegarini
L
L
Gimelli
G
G
Alpigiani
M G
MG
D000367:Age Factors; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000175:diagnosis; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005500:Follow-Up Studies; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis / Q000209:etiology; D004676:Myelin Basic Protein / Q000172:deficiency* / Q000235:genetics; D010641:Phenotype; D013577:Syndrome
D004676:Myelin Basic Protein
Sindrome 18q- con carenza di myelin basic protein (MBP).