title: Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.
abstract: OBJECTIVE
  CAMTA1 mutations have recently been reported in families with intellectual disability and/or non-progressive congenital ataxias. The objective of this study was to describe the neuropsychological and neuroimaging phenotype of CAMTA1 mutation.
  
  
  METHODS
  We performed neuropsychological examinations, MRI and FDG-PET imaging in three patients with autosomal dominant mild intellectual disabilities and ataxia induced by a CAMTA1 intragenic deletion at 1p36.31p36.23.
  
  
  RESULTS
  Neuropsychological tests showed similar findings in two patients, with low information processing speed, slow memory consolidation, phonological disorders, working memory deficits, but mainly preserved executive function. Bilateral parietal and medial temporal abnormalities were found on brain MRI. Diffuse parieto-occipital and local left temporo-parietal decrease of FDG uptake was observed on PET images.
  
  
  CONCLUSIONS
  These results suggest that CAMTA1 mutation may induce an unusual neuropsychological profile and parieto-temporal developmental abnormalities. We recommend screening for CAMTA1 mutations in patients with autosomal dominant mild intellectual disability presenting with similar a phenotype.
authors.affiliation: Department of Neurology, Besançon University Hospital, France; Memory Center (CMRR), Besançon University Hospital, France; Department of Functional Neuro-imaging, Besançon University Hospital, France. Electronic address: eloi.magnin@laposte.net.
authors.forename: Eloi
authors.initials: E
authors.lastname: Magnin
authors.affiliation: Department of Nuclear Medicine and EA 4662 "Nanomedicine Lab, Imagery and Therapeutics", Franche-Comté University Besançon University Hospital, France.
authors.forename: Oleg
authors.initials: O
authors.lastname: Blagosklonov
authors.affiliation: Memory Center (CMRR), Besançon University Hospital, France.
authors.forename: Geraldine
authors.initials: G
authors.lastname: Sylvestre
authors.affiliation: Genetic Center and Reference Center «Anomalies du Développement et Syndromes Malformatifs», Dijon University Hospital, France.
authors.forename: Delphine
authors.initials: D
authors.lastname: Minot
authors.affiliation: Genetic Center and Reference Center «Anomalies du Développement et Syndromes Malformatifs», Dijon University Hospital, France; EA 4271 "Génétique des Anomalies du Développement", IFR 100-Santé STIC, Bourgogne University, Dijon, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Thevenon
authors.affiliation: Genetic Center and Reference Center «Anomalies du Développement et Syndromes Malformatifs», Dijon University Hospital, France; EA 4271 "Génétique des Anomalies du Développement", IFR 100-Santé STIC, Bourgogne University, Dijon, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.affiliation: Department of Nuclear Medicine and EA 4662 "Nanomedicine Lab, Imagery and Therapeutics", Franche-Comté University Besançon University Hospital, France.
authors.forename: Hatem
authors.initials: H
authors.lastname: Boulahdour
authors.affiliation: Genetic Center and Reference Center «Anomalies du Développement et Syndromes Malformatifs», Dijon University Hospital, France; EA 4271 "Génétique des Anomalies du Développement", IFR 100-Santé STIC, Bourgogne University, Dijon, France.
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.affiliation: Department of Neurology, Besançon University Hospital, France; Memory Center (CMRR), Besançon University Hospital, France; Clinical Investigation Centre, INSERM CIT 808, Besançon University Hospital, France.
authors.forename: Lucien
authors.initials: L
authors.lastname: Rumbach
mesh_terms: D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D005260:Female; D019788:Fluorodeoxyglucose F18; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D010641:Phenotype; D049268:Positron-Emission Tomography; D015534:Trans-Activators / Q000235:genetics*
chemical_list: C487554:CAMTA1 protein, human; D002135:Calcium-Binding Proteins; D015534:Trans-Activators; D019788:Fluorodeoxyglucose F18
keywords: CAMTA1; Genetic; Intellectual disability; MRI; Neuropsychology; PET; Parietal cortex