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Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding

UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain
Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain
Division of Internal Medicine, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain
Department of Pediatric Neurology, Hospital Virgen de la Arrixaca and IMIB-Arrixaca, CIBERER-ISCIII, 28029 Madrid, Spain
German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany
Prion Laboratory, CIMUS Biomedical Research Institute, University of Santiago de Compostela-IDIS, Santiago de Compostela, 15782 Santiago de Compostela, Spain
Author to whom correspondence should be addressed.
These authors contributed equally to this manuscript.
Academic Editor: Andrew Collier
J. Clin. Med. 2021, 10(7), 1435;
Received: 14 February 2021 / Revised: 18 March 2021 / Accepted: 27 March 2021 / Published: 1 April 2021
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. View Full-Text
Keywords: Celia’s encephalopathy; PELD; seipin; BSCL2; congenital generalized lipodystrophy; neurodegeneration Celia’s encephalopathy; PELD; seipin; BSCL2; congenital generalized lipodystrophy; neurodegeneration
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MDPI and ACS Style

Sánchez-Iglesias, S.; Fernández-Pombo, A.; Cobelo-Gómez, S.; Hermida-Ameijeiras, Á.; Alarcón-Martínez, H.; Domingo-Jiménez, R.; Ruíz Riquelme, A.I.; Requena, J.R.; Araújo-Vilar, D. Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding. J. Clin. Med. 2021, 10, 1435.

AMA Style

Sánchez-Iglesias S, Fernández-Pombo A, Cobelo-Gómez S, Hermida-Ameijeiras Á, Alarcón-Martínez H, Domingo-Jiménez R, Ruíz Riquelme AI, Requena JR, Araújo-Vilar D. Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding. Journal of Clinical Medicine. 2021; 10(7):1435.

Chicago/Turabian Style

Sánchez-Iglesias, Sofía, Antía Fernández-Pombo, Silvia Cobelo-Gómez, Álvaro Hermida-Ameijeiras, Helena Alarcón-Martínez, Rosario Domingo-Jiménez, Alejandro I. Ruíz Riquelme, Jesús R. Requena, and David Araújo-Vilar. 2021. "Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding" Journal of Clinical Medicine 10, no. 7: 1435.

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