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A group of Spanish researchers has discovered a new neurodegenerative syndrome child, known as Celia's encephalopathy, in memory of Celia Carrion Perez de Tudela, daughter of Naca Perez de Tudela (President of the Association of Dgenes rare diseases and the Association of Family and lipodystrophy affected AELIP) and Juan Carrion (President of the Spanish Federation of rare diseases ERDF).
The work has just been published in the online version of the Journal of Medical Genetics.
David Araújo-Vilar and Jesus Requena, University of Santiago de Compostela (USC), in collaboration with two experts of the University Hospital Virgen de la Arrixaca of Murcia embodies Drs Rosario Guillen and Sunday, have described a new neurodegenerative syndrome child together with genetic and molecular bases.
This new disease-called encephalopathy in memory of Celia first recognized case-begins in early childhood as psychomotor retardation, and from three to four years children experience a neurodegenerative process that leads to death before the nine .
THANKS YOU CELIA.
Your generosity and collaboration allows science to discover a new day to continue enjoying life.
VISIT AND COLLABORATE www.aelip.org AELIP Contact: info@aelip.org
According to the authors of the study, published in the online version of the Journal of Medical Genetics, "it is an autosomal recessive disease, with the particular circumstance that had compound heterozygous patients, in addition to neurological, generalized lipodystrophy".
The disease is caused by a hitherto unknown mutation in the gene encoding BSCL2 seipina protein.
This new mutation gives rise to a region of alternative splicing leads to the loss of exon 7 of the gene, causing an aberrant protein expressed 1,000 times more in the brain of patients.
Pathological studies of two patients showed a marked impairment of the cerebral cortex and basal ganglia, with immunohistochemical demonstrations that resemble those seen in Huntington's disease.
Patients identified-a total of six, of which five have already died, are from three municipalities Jumilla, Mula and Totana, in the autonomous community of the Region of Murcia.
The discovery of the genetic and molecular basis of this new disease, is a very important step, from the scientific point of view and also for the clinic.
From now on, it will be easier the other cases dioagnostico and sized em families this alteration is detected pdoran receive genetic counseling and eligible for preimplantation diagnosis,.
Bibliographic reference
Embodies Guillen-Navarro, Sofia Sanchez-Iglesias, Rosario Domingo-Jimenez, Berta Victoria, Alejandro Ruiz-Riquelme, Alberto Radish, Lourdes Loidi, Andres Beiras, Blanca Gonzalez-Mendez, Adriana Ramos, Vanessa López-González, María Juliana Martínez-Ballesta Miguel Garrido-Pumar, Pablo Aguiar, Alvaro Ruibal, Jesus R Requena, and David Araújo-Vilar.
A new seipin-associated neurodegenerative syndrome.
J Med Genet jmedgenet-2013-101525 Published Online First: 6 April 2013 doi: 10.1136/jmedgenet-2013-101525 Journal of Medical Genetics.
Source: AELIP
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