RT Journal Article
T1 Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding
A1 Sánchez Iglesias, Sofía
A1 Fernández Pombo, Antía
A1 Cobelo Gómez, Silvia
A1 Hermida Ameijeiras, Álvaro
A1 Alarcón Martínez, Helena
A1 Domingo Jiménez, María Rosario
A1 Ruiz Riquelme, Alejandro Iván
A1 Rodríguez Requena, Jesús
A1 Araujo-Vilar, David
K1 Celia’s encephalopathy
K1 PELD
K1 Seipin
K1 BSCL2
K1 Congenital generalized lipodystrophy
K1 Neurodegeneration
AB Seipin, encoded by the BSCL2 gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in BSCL2 can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases, or progressive encephalopathy, with a poor prognosis during childhood. The latter, Celia’s encephalopathy, which may or may not be associated with generalized lipodystrophy, is caused by the c.985C >T variant. This cytosine to thymine transition creates a cryptic splicing zone that leads to intronization of exon 7, resulting in an aberrant form of seipin, Celia seipin. It has been proposed that the accumulation of this protein, both in the endoplasmic reticulum and in the nucleus of neurons, might be the pathogenetic mechanism of this neurodegenerative condition. In recent years, other variants in BSCL2 associated with generalized lipodystrophy and progressive epileptic encephalopathy have been reported. Interestingly, most of these variants could also lead to the loss of exon 7. In this review, we analyzed the molecular bases of Celia’s encephalopathy and its pathogenic mechanisms, the clinical features of the different variants, and a therapeutic approach in order to slow down the progression of this fatal neurological disorder
PB MDPI
YR 2021
FD 2021
LK http://hdl.handle.net/10347/25269
UL http://hdl.handle.net/10347/25269
LA eng
NO J. Clin. Med. 2021, 10(7), 1435; https://doi.org/10.3390/jcm10071435
NO This work was supported by the Instituto de Salud Carlos III and the European Regional Development Fund, FEDER (grant numbers PI10/02873 and PI13/00314), by the Consellería de Industria, Xunta de Galicia (grant numbers 10PXIB208013PR, ED341b 2017/19 and ED431B 2020/37), and by Fundación Mutua Madrileña (Call 2015). S.S.I. was awarded a Research Fellowship, granted by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP)
DS Minerva
RD 27 abr 2026