Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Berardinelli-Seip syndrome
Congenital Generalized Lipodystrophy type 2
Progressive Myoclonic Epilepsy
Seipin
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
Nov 2020
Nov 2020
Historique:
received:
13
10
2019
accepted:
13
04
2020
pubmed:
23
5
2020
medline:
15
5
2021
entrez:
23
5
2020
Statut:
ppublish
Résumé
Berardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications. Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed. We report the case of two sisters, 11 and 18 years old respectively, with an overlapping clinical phenotype compatible with Berardinelli-Seip syndrome and progressive myoclonic epilepsy. Molecular analysis identified an autosomal recessive c.1048C > t;(p(Arg350*)) pathogenic mutation of exon 8 of the BSCL2 gene, which was present in a homozygous state in both patients. Our paper contributes to further delineate a complex phenotype associated with BSCL2 mutation, underlining how seipin has a central and partially still unknown role that goes beyond adipose tissue metabolism, with a prominent involvement in central nervous system pathology.
Identifiants
pubmed: 32440981
doi: 10.1007/s10072-020-04418-1
pii: 10.1007/s10072-020-04418-1
doi:
Substances chimiques
BSCL2 protein, human
0
GTP-Binding Protein gamma Subunits
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3345-3348Commentaires et corrections
Type : CommentIn
Références
Patni N, Garg A (2015) Congenital generalized lipodystrophies—new insights into metabolic dysfunction. Nat Rev Endocrinol 11(9):522–534. https://doi.org/10.1038/nrendo.2015.123
doi: 10.1038/nrendo.2015.123
pubmed: 26239609
Opri R, Fabrizi GM, Cantalupo G, Ferrarini M, Simonati A, Dalla Bernardina B, Darra F (2016) Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review. Seizure. 42:1–6. https://doi.org/10.1016/j.seizure.2016.08.008
doi: 10.1016/j.seizure.2016.08.008
pubmed: 27632409
Lima JG, Nobrega LH, de Lima NN, do Nascimento Santos MG, Baracho MF, Jeronimo SM (2016) Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr 8:23. https://doi.org/10.1186/s13098-016-0140-x
doi: 10.1186/s13098-016-0140-x
pubmed: 26985241
pmcid: 4793761
Tseng CF, Ho CS, Chiu NC, Lin SP, Tzen CY, Wu YH (2009) Lafora disease and congenital generalized lipodystrophy: a case report. Kaohsiung J Med Sci 25(12):663–668. https://doi.org/10.1016/S1607-551X(09)70572-8
doi: 10.1016/S1607-551X(09)70572-8
pubmed: 19951852
Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D (2013) A new seipin-associated neurodegenerative syndrome. J Med Genet 50(6):401–409. https://doi.org/10.1136/jmedgenet-2013-101525
doi: 10.1136/jmedgenet-2013-101525
pubmed: 23564749
Serino D, Davico C, Specchio N, Marras CE, Fioretto E (2019) Berardinelli-Seip syndrome and progressive myoclonus epilepsy. Epileptic Disord 21(1):117–121. https://doi.org/10.1684/epd.2019.1038
doi: 10.1684/epd.2019.1038
pubmed: 30767895
Ebihara C, Ebihara K, Aizawa-Abe M, Mashimo T, Tomita T, Zhao M, Gumbilai V, Kusakabe T, Yamamoto Y, Aotani D, Yamamoto-Kataoka S, Sakai T, Hosoda K, Serikawa T, Nakao K (2015) Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis. Hum Mol Genet 24(15):4238–4249. https://doi.org/10.1093/hmg/ddv156
doi: 10.1093/hmg/ddv156
pubmed: 25934999
Garfield AS, Chan WS, Dennis RJ, Ito D, Heisler LK, Rochford JJ (2012) Neuroanatomical characterisation of the expression of the Lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brain. PLoS One 7(9):e45790. https://doi.org/10.1371/journal.pone.0045790
doi: 10.1371/journal.pone.0045790
pubmed: 23049863
pmcid: 3458087
Sánchez-Iglesias S, Fernández-Liste A, Guillín-Amarelle C, Rábano A, Rodriguez-Cañete L, González-Méndez B, Fernández-Pombo A, Senra A, Araújo-Vilar D (2019) Does seipin play a role in oxidative stress protection and peroxisome biogenesis? New insights from human brain autopsies. Neuroscience 396:119–137. https://doi.org/10.1016/j.neuroscience.2018
doi: 10.1016/j.neuroscience.2018
pubmed: 30447390
Kälviäinen R (2015) Progressive myoclonus epilepsies. Semin Neurol 35(3):293–299. https://doi.org/10.1055/s-0035-1552620
doi: 10.1055/s-0035-1552620
pubmed: 26060909