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Ataxia and progressive myoclonic epilepsy associated with reduced ceramide synthase 1 (CERS1)

2015; Elsevier BV; Volume: 357; Linguagem: Inglês

10.1016/j.jns.2015.08.825

1878-5883

Carolina Afonso, Melina Lorenzini Campos, V.L. Mendes, Carolina Campelo, A.F.C. Camilo, C.E.R. Correia, M.M. Figueiredo, Fernando Kok, C.O.G. Junior,

Lipid metabolism and biosynthesis

Background: Ceramides and their sphingolipid have a wide range of biological functions. Ceramide synthase 1 (CERS1) catalyzes the synthesis of C18 ceramide and is mainly expressed in the brain. Alterations of sphingolipid metabolism are involved in the pathogenesis of many neurodegenerative disorders. Objective: Report a case of myoclonic epilepsy and ataxia associated with homozygous variant in the gene CERS1, described in only one family previously). Patients and methods: male, 22 years old with history of appendicular ataxia since 01 years old, followed by slight myoclonic jerks that progressively worsened despite treatment instituted and delayed psychomotor development. He had a previous episode of generalized tonic-clinic seizures (CTCSs). The electroencephalography (EEG) showed bursts of generalized polyspikes and slow wave discharges and Magnetic Ressonance imaging of the brain showed signs of pontine atrophy, cerebellum and cerebellar peduncle medium and higher, associated with the pontine cross sign. Genomix exonme's analysis demonstrated a homozygous variant of CERS1. Results: It was found a homozygous variant of CERS1 gene in a patient with epilepsy, ataxia and progressive myoclonic epilepsy, a rare condition currently described as myoclonic epilepsy type 8. Conclusion: Our case demonstrates that reduced levels of CERS1 could be associated with progressive myoclonic epilepsy and must be considered as a differential diagnosis, supporting that impairment of ceramide biosynthesis underlies neurodegeneration in humans. Futher studies may help to define the phenotypes more appropriately.