Eloi Magnin1, Oleg Blagosklonov2, Geraldine Sylvestre3, Delphine Minot4, Julien Thevenon5, Laurence Faivre5, Hatem Boulahdour2, Christel Thauvin-Robinet5, Lucien Rumbach6. 1. 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. 2. Department of Nuclear Medicine and EA 4662 "Nanomedicine Lab, Imagery and Therapeutics", Franche-Comté University Besançon University Hospital, France. 3. Memory Center (CMRR), Besançon University Hospital, France. 4. Genetic Center and Reference Center «Anomalies du Développement et Syndromes Malformatifs», Dijon University Hospital, France. 5. 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. 6. Department of Neurology, Besançon University Hospital, France; Memory Center (CMRR), Besançon University Hospital, France; Clinical Investigation Centre, INSERM CIT 808, Besançon University Hospital, France.
Abstract
BACKGROUND/AIMS: 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. CONCLUSION: 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.
BACKGROUND/AIMS: 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. CONCLUSION: 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: Raghavendra Y Nagaraja; David M Sherry; Jennifer L Fessler; Megan A Stiles; Feng Li; Karanpreet Multani; Albert Orock; Mohiuddin Ahmad; Richard S Brush; Robert E Anderson; Martin-Paul Agbaga; Ferenc Deák Journal: Mol Neurobiol Date: 2021-07-05 Impact factor: 5.590