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Boulloche J, Aicardi J.

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Given the location of the causal gene, PMD is inherited in a X-linked recesive manner 3.

Gow A, Lazzarin RA. Case series presentation Seven individuals ages 6 months to 16 years edl probands, 3 male relatives of the probandsdiagnosed clinically, paraclinically and molecularly as Pelizaeus Merzbacher patients, attended in different medical care centers in Colombia Fig. Z Ges De Psychiatr. No head support or crawling. This study was approved by the ethics committee of the Faculty of Medicine of Universidad Nacional. 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.

In order to evaluate the impact of the molecular alterations detected, we used softwares as PolyPhen – 2 v. Affected individuals with the connatal form of PMD die in infancy, usually secondary to respiratory or deglutition complications, such as bronchoaspiration 9.

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Eur J Hum Genet. University of Washington, Seattle; https: Connatal form of PMD is less frequent and far more severe than the classic phenotype.

All patients were male, 6 months to 16 desarroloo of age, one of them died by the age of 5 due to complications of a respiratory infection.


A wide range of mutations in PLP1 has been described, recurrently detecting a whole gene duplication as the most frequent alteration 1718 PLP1-related inherited dysmyelinating disorders Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Conclusions 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.

Both patients with the connatal deszrrollo of the disease had severe disability scores and poor vital prognosis, despite having the chance of an earlier diagnosis.

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease

PMD corresponds to a larger group of neurological phenotypes known as PLP1 related disorders, all being allelic diseases: When testing them for the PMD functional disability scoring systemall seven individuals had any level of disability, being moderate in We present a series of seven Colombian patients diagnosed with this leucodystrophy, describing their genotypic and phenotypic characteristics and heterogeneity.

The proteolipid protein gene and myelin disorders in man and animal models. Hobson GM, Kamholz J. PLP1 gene dosage alterations duplications were found in 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. Pelizaeus-Merzbacher disease clinical and nosological study.

In spite of the incapacitating character of this disease, patients with less severe or moderate forms of PMD have rather normal life expectancy, but there are records of patients with severe classical forms who died past the second decade of life. PLP1 molecular analysis Complete duplication.

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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.

Molecular studies were used in the majority of the cases to confirm the diagnosis. Results from the clinical evaluation of patients with Pelizaeus Merzbacher Disease. Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease metabolic abnormalities as diagnostic tools.

C-terminal transmembrane domain is encoded by exons 6 and 7.

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Diffuse compromise dfsarrollo retinocorial pathways with axonal lost pattern. 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 xbreviada the specific therapeutic plan and the appropriate genetic counseling for the families. This article describes seven Colombian individuals with clinical, paraclinical and molecular diagnosis of PMD, through phenotype and gene variant characterization.

Unlike other leukodystrophies in which there is a period of normal cortical myelination an then 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 on the PLP1 gene unicfe 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.

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease Translated title es: