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Structure and molecular arrangement of proteolipid protein desarroollo central nervous system myelin. A wide range of mutations in PLP1 has been described, recurrently detecting a whole gene duplication as the most frequent alteration 1718 Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease Translated title es: C-terminal transmembrane domain is encoded by exons 6 and 7.

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

In general, PLP1 gene duplications result in a classical form of PMD, nonsense mutations in either form of SPG2 and connatal form of PMD, and other monoallelic mutations have been related to less circumscribed clinical phenotypes 6.

PMD corresponds to a larger group of neurological phenotypes known as PLP1 related disorders, all being allelic diseases: Mean age at onset of symptoms was 8 months.

Available for abrveiada by the Editors of this journal and are kept within the clinical records of each patient. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

Calaméo – Saray Esther Polo Polo

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher abeviada. Ile47IlefsX4 and resulted in a truncated protein product, 4 aminoacids downstream University of Washington, Seattle; https: Copies of the written consents are.

In order to evaluate the impact of the molecular alterations detected, we used softwares as PolyPhen – 2 v. Hobson GM, Kamholz J. III – 6 Age at onset 2 yr. Eur J Hum Genet.

Most of mutations detected on individuals diagnosed with SPG2 are missense 8. 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.


To our knowledge, this is not only one of first Latin-American case series but the larger one, presenting the main characteristics of the clinical diagnosis and molecular signatures of PMD male affected patients, being the classical form overall more frequent than the connatal form. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. Only three patients were able to achieve gait, though altered.

Also, it is worth mentioning that SPG2 affected males can reproduce, while there are no reports of PMD affected males who have descendants 9. PV white matter irregular signal on T2. Connatal form of PMD is more severe than the classical form, a verifiable fact in our series, and with a reported expectancy of life lower than the first decade of life. Because of this, it is a priority for the clinical specialists and treating physicians to improve the diagnosis algorithms in order to shorten time before establishment of the specific therapeutic plan and the appropriate genetic counseling for the families.

Although clinical manifestations are heterogeneous 56the most relevant neurological signs are nistagmus, developmental delay, spasticity, along with neuroimaging supporting aberrant myelination of the Central Nervous System CNS compromising primarily the periventricular white matter, with a tigroid striation pattern that responds to the conservation of myelinated islets, and also an alteration of the N-acetyl aspartate and choline profiles on the brain magnetic resonance spectroscopy 57.

Note that patients are cited on the tables with their assigned pedigree numbers. 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.

They underwent clinical evaluations, neuroimaging i. Neuroimaging of patients with classic PMD showed evidence of T2 hyperintensities both diffuse or periventricular in the supratentorial withe matter. Interestingly, it has been described NS affected individuals to have a multifocal demyelinating neuropathy 812 sometimes being the only clinical feature of the syndrome; NS patients do not present with nystagmus, their spastic paraplegia is mild, affecting primarily the lower limbs, and ataxic compromise may vary.


Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease metabolic abnormalities as diagnostic tools. F51Y affects an extracellular topological domain 14 The espectrum of PLP1 gene mutations in patients with desargollo form of the Pelizaeus Merzbacher disease.

It is worth saying that all patients exhibited some level of speech delay or learning difficulties, and that only two were going to school. Mean age at diagnosis was 5 years 5 months, being classic Desarrllo most frequently diagnosed, as compared to the connatal phenotype. Mean age at diagnosis was 5 desarrolo 5 months, being classic PMD most frequently diagnosed, in five cases, whereas the connatal phenotype was only present in two of the patients, Exon 1 only transcribes the start codon, while exons 2, 3, 4, and 5 encode the hydrophobic domains and the hydrophilic chains of the protein.

Saray Esther Polo Polo

For two cases molecular confirmation was not considered necessary given their affected male brothers had already been tested. 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 Unnicef of Psychosocial Development, https: Diagnosis can be desaerollo primarily with SPG2, also caused by mutations on the PLP1 gene, differing on signs such as autonomic dysfunction and characteristic paraplegia.

No head support or crawling. PLP1 gene dosage alterations duplications were found in PV posterosuperior white matter irregular signal on T2. Classic PMD is characterized in the first stages of disease by nystagmus, hypotonia and tremor in male affected patients, joint progressively by ataxia and spastic quadriparesis in the school age.