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Pelizaeus Merzbacher Disease Deswrrollo is a chronic pediatric leukoencephalopathy caused by disorders of the axonal myelination and the myelin metabolism in the oligodendrocytes, reported for the first time on by doctor Friedrich Pelizaeus 1 and revisited on by Ludwig Merzbacher 2.

The espectrum of PLP1 gene mutations in patients with classical form of the Pelizaeus Merzbacher disease. As for the two patients who had diagnosis of connatal PMD, it was documented both had experienced swallowing or deglutory disorders, history of seizures, microcephaly in just one of them and maturational ages in danger zones according to the WHO Abbreviated Scale of Psychosocial Development WHO Abbreviated Scale of Psychosocial Development, https: Classic PMD affected males also have improved cognitive development, with acceptable speech.

Results All patients were male, 6 months to 16 years of age, one of them died by the age of 5 due to complications of a respiratory infection. III – 6 Age at onset 2 yr.

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Its genetic etiology affects the expression of the Proteolipidic Protein type 1 34varying from hemizygous mutations to gene dosage alterations of the PLP1 Ubicef We believe it is important to establish abdeviada biochemical functionality of I47 position on the myelin proteolipidic protein to evaluate its impact on the connatal phenotype of PMD disease, given that there are not functional studies to this date that prove in vitro or in vivo effects.

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Results from the clinical evaluation of patients with Pelizaeus Merzbacher Disease. PLP1 gene dosage alterations duplications were found in Age at diagnosis 5 yr 11 ms. Orphanet J Rare Dis. Case series presentation Seven individuals ages 6 months to 16 years 4 probands, 3 male relatives of the probandsdiagnosed clinically, paraclinically and molecularly as Pelizaeus Merzbacher patients, attended in different medical care centers in Colombia Fig.

PLP1 is further translted into the proteolipid protein 1 PLP1a aminoacid peptide, or the isoform called DM20, which loses 35 residues inside its intracellular loop. Copies of the written consents are.

Patients can also have nystagmus, optic atrophy, dysarthria, ataxic features and variable range of intellectual disability; however, symptoms appear to be less compromising tan those presenting in classic PMD.

When testing them for the PMD functional disability scoring systemall seven individuals had any level of disability, being moderate in Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. Ile47IlefsX4 and resulted in a truncated protein product, 4 aminoacids downstream Another differential diagnosis to consider is SPG2, an allelic disorder to PMD and NS, consisting of an heterogeneous constellation of clinical phenotypes primarily characterized by weakening and progressive lower limb spasticity during the first decade of life, with previous normal motor development.

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PLP1 gene is located in chromosomal region Xq22, with escsla 17 kb lenght, 7 exons and 6 introns. On the other hand, NS patients suffer from a less harmful condition also caused by large deletions or damaging mutations resulting in loss of PLP1 protein product.

I47Ta missense variant classified as pathogenic, and two previously unreported alterations, the c. First symptoms No head support uniceef crawling. Neuroradiologic correlates of clinical disability and progression in the X-Linked leukodystrophy Pelizaeus-Merzbacher disease.

Unlike other leukodystrophies in which there is a period of normal cortical myelination an abrevlada comes a disruption resulting in the lost of myelin sheaths demyelinationPMD has, from the beginning, an abnormal or low production of this very important protein hypomyelinationdue to a damage uniicef the Desarrillo gene coding for the Protelipidic Protein type 1 that interferes with the oligodendrocyte synthesis of fully functional myelin sheaths and probably also affects the peripheral function of myelinated axons 38.

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PV posterosuperior white matter irregular signal on T2. This study was approved by the ethics committee of the Faculty of Medicine of Universidad Nacional.

Molecular studies were used in the majority of the cases to confirm the diagnosis Note that patients are cited on the tables with their assigned pedigree numbers. Uniceg compromise of retinocorial pathways with axonal lost pattern. Affected individuals with the connatal form of PMD die in infancy, usually secondary to respiratory or deglutition complications, such as bronchoaspiration 9.

PMD corresponds to a larger group of neurological phenotypes known as PLP1 related disorders, all being allelic diseases: C-terminal transmembrane domain is encoded by exons 6 and 7.

Z Ges Neurol Psychiatr. All patients were male, 6 months to 16 years of age, one of them died by the age of 5 due to complications of a respiratory infection. UniProt Consortium; 03 August Molecular Analysis and Results: It is worth saying that all patients exhibited some level of speech delay or learning difficulties, and that only two were going to school.

A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.

Am J Hum Genet. Discussion We present one of the first Latin-American series of patients with clinical diagnosis and molecular confirmation of Pelizaeus Merzbacher disease, being the classical form more frequent than the connatal form in the evaluated patients. Along with the high clinical suspicion, supporting neuroimaging and molecular analysis permit an appropriate genetic counselling.

Its genetic aetiology can be either a duplication or other gene dosage alterations or a punctual mutation at the PLP1 locus.