title: Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation.
abstract: BACKGROUND
  ANO10 mutations have recently been reported in autosomal recessive cerebellar ataxia type 3 (ARCA3). The objective of this study was to describe the phenotype of 2 siblings with compound heterozygous ANO10 mutations and progressive cerebellar ataxia, epilepsy, and cognitive impairment. A porencephalic cyst was also described in one of them and a coenzyme Q10 deficiency in the other one.
  
  
  METHODS
  We performed neurological, neuropsychological, electromyographic, electroencephalic and MRI examinations in 2 siblings with compound heterozygous ANO10 mutations.
  
  
  RESULTS
  We reported for the first time the neuropsychological profile of 2 ARCA3 patients showing an adult-onset executive and attentional syndrome. Both presented epilepsy. One of them presented a porencephalic cyst.
  
  
  CONCLUSIONS
  These results suggest that executive and attentional disorders are impaired in ANO10 mutation. In addition, epilepsy and porencephalic cysts were also described in our ARCA3 patients, the cyst thus expanding the clinical phenotype of ARCA3 patients due to ANO10 mutation.
authors.affiliation: Centre Mx00E9;moire Ressources et Recherche (CMRR), Service de Neurologie, CHRU Besanx00E7;on, Besanx00E7;on, France.
authors.forename: Ludivine
authors.initials: L
authors.lastname: Chamard
authors.forename: Géraldine
authors.initials: G
authors.lastname: Sylvestre
authors.forename: Michel
authors.initials: M
authors.lastname: Koenig
authors.forename: Eloi
authors.initials: E
authors.lastname: Magnin
mesh_terms: D000293:Adolescent; D000328:Adult; D000075368:Anoctamins; D020863:Central Nervous System Cysts / Q000235:genetics* / Q000473:pathology; D002524:Cerebellar Ataxia / Q000150:complications* / Q000235:genetics* / Q000473:pathology*; D060825:Cognitive Dysfunction / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: C000594870:ANO10 protein, human; D000075368:Anoctamins; D008565:Membrane Proteins