title: Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
abstract: OBJECTIVE
  A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized Lipodystrophy type 2 (CGL2) related to novel Seipin mutations.
  
  
  METHODS
  The EEG-clinical picture was evaluated at epilepsy onset and in the follow-up period. The molecular analysis of BSCL2, Laforin and Malin genes was performed to patients and/or their parents by Denaturing High Performance Liquid Chromatography and automated nucleotide sequencing. Skin specimens collected from a patient were processed for histochemical and ultrastructural analysis.
  
  
  RESULTS
  The CGL2-PME syndrome co-segregated with two different BSCL2 genotypes: the homozygosity for c.782_783dupG involving exon 8 (two cases), or the compound heterozygosity for c.782_783dupG/c.828_829delAA (one case). Periodic-Acid Schiff positive osmiophilic material in the cytoplasm of fibrocytes and eccrine-gland cells were found in skin specimens. The lack of Lafora's bodies in skin specimens and the molecular analysis excluding mutations in Laforin and Malin genes ruled out Lafora disease.
  
  
  CONCLUSIONS
  The spectrum of CGL2 associated to BSCL2 gene mutations may include PMEs. Selected mutations in BSCL2 gene seem to be related to PMEs in patients with CGL2 phenotype.
authors.affiliation: University Hospital of Verona, Department of Surgical Sciences, Gynecology and Pediatrics, Section of Child Neuropsychiatry, piazzale L.A. Scuro 10, 37134 Verona, Italy. Electronic address: roberta.opri@univr.it.
authors.forename: Roberta
authors.initials: R
authors.lastname: Opri
authors.affiliation: University Hospital of Verona, Department of Neurosciences, Biomedicine and Movement Sciences, Section of Neuropathology, piazzale L.A. Scuro 10, 37134 Verona, Italy.
authors.forename: Gian Maria
authors.initials: GM
authors.lastname: Fabrizi
authors.affiliation: University Hospital of Verona, Department of Surgical Sciences, Gynecology and Pediatrics, Section of Child Neuropsychiatry, piazzale L.A. Scuro 10, 37134 Verona, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Cantalupo
authors.affiliation: University Hospital of Verona, Department of Neurosciences, Biomedicine and Movement Sciences, Section of Neuropathology, piazzale L.A. Scuro 10, 37134 Verona, Italy.
authors.forename: Moreno
authors.initials: M
authors.lastname: Ferrarini
authors.affiliation: University Hospital of Verona, Department of Neurosciences, Biomedicine and Movement Sciences, Section of Neurology, Child Neurology and Psychiatry, piazzale L.A. Scuro 10, 37134 Verona, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Simonati
authors.affiliation: University Hospital of Verona, Department of Surgical Sciences, Gynecology and Pediatrics, Section of Child Neuropsychiatry, piazzale L.A. Scuro 10, 37134 Verona, Italy.
authors.forename: Bernardo
authors.initials: B
authors.lastname: Dalla Bernardina
authors.affiliation: University Hospital of Verona, Department of Surgical Sciences, Gynecology and Pediatrics, Section of Child Neuropsychiatry, piazzale L.A. Scuro 10, 37134 Verona, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Darra
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology*; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics; D012867:Skin / Q000378:metabolism / Q000473:pathology; D044767:Ubiquitin-Protein Ligases
chemical_list: C432679:BSCL2 protein, human; D002352:Carrier Proteins; D044388:GTP-Binding Protein gamma Subunits; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human
keywords: BSCL2; Berardinelli–Seip; EEG; Seipin