title: Angelman syndrome: a case series assessing neurological issues in adulthood.
abstract: BACKGROUND
  This study aimed to evaluate the clinical symptoms of Angelman syndrome (AS) in adults and to identify the neurological pathways affected in this disease. AS is a neurogenetic disorder resulting due to the deletion or inactivation of the ubiquitin-protein-ligase E3A gene on maternal chromosome 15.
  
  
  CONCLUSIONS
  A retrospective analysis of data from six adults patients with clinical, electroencephalographic and genetic confirmation of AS was performed. Movement disorders of the hands and mouth, laughing spells, severe expressive speech disorders, a happy nature, hyposomnia and anxiety are the major neurological characteristics of AS in adulthood. Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood. Epilepsy, one of the most frequent symptoms in childhood and in adulthood, is characterised by specific electroencephalographic patterns. Key Messages: These clinical characteristics are important to improve the clinical awareness and genetic diagnosis of AS. Clinicians must be better informed concerning the adult phenotype as it is not well described in the literature. We stress the importance of AS as one of the main causes of intractable epilepsy. The authors suggest frontal and cerebellar dysfunction. Further functional cerebral imaging studies are necessary.
authors.affiliation: Department of Neurology, University Hospital of Besançon, Besançon, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Giroud
authors.forename: Benoît
authors.initials: B
authors.lastname: Daubail
authors.forename: Norbert
authors.initials: N
authors.lastname: Khayat
authors.forename: Mondher
authors.initials: M
authors.lastname: Chouchane
authors.forename: Eric
authors.initials: E
authors.lastname: Berger
authors.forename: Emelyne
authors.initials: E
authors.lastname: Muzard
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Medeiros de Bustos
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Alice
authors.initials: A
authors.lastname: Masurel
authors.forename: Véronique
authors.initials: V
authors.lastname: Darmency-Stamboul
authors.forename: Frédéric
authors.initials: F
authors.lastname: Huet
authors.forename: Yannick
authors.initials: Y
authors.lastname: Béjot
authors.forename: Maurice
authors.initials: M
authors.lastname: Giroud
authors.forename: Thierry
authors.initials: T
authors.lastname: Moulin
mesh_terms: D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000150:complications* / Q000503:physiopathology*; D004569:Electroencephalography / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D012189:Retrospective Studies