title: Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy.
abstract: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a nonlesional condition associated with mutation of the gene coding for the alpha4 nicotinic acetylcholine receptor (nAChR). The nAChR modulates aspects of memory and attention. We examined the neuropsychological phenotype of ADNFLE, with a particular emphasis on understanding the impact on frontal lobe functions. We used standard clinical tests as well as focused measures of frontal lobe function in a well-defined group of patients with ADNFLE. Their performance was compared with that of a group of age-, sex-, and education-matched control participants. Patients with ADNFLE showed impairments on tasks requiring cognitive flexibility against a background of well-preserved intellectual abilities. In accord with existing research, verbal memory impairments were identified in the patient group; the level of impairment on these tasks correlated with disease-related factors. In our study of ADNFLE associated with one mutation, cognitive flexibility appears to be the core cognitive deficit.
authors.affiliation: Department of Medicine, Southern Clinical School, Monash University, Melbourne, Australia. amanda.wood@mcri.edu.au
authors.forename: Amanda G
authors.initials: AG
authors.lastname: Wood
authors.forename: Michael M
authors.initials: MM
authors.lastname: Saling
authors.forename: Marco
authors.initials: M
authors.lastname: Fedi
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: Christopher
authors.initials: C
authors.lastname: Benjamin
authors.forename: David C
authors.initials: DC
authors.lastname: Reutens
mesh_terms: D000328:Adult; D001245:Association Learning / Q000502:physiology; D002940:Circadian Rhythm / Q000235:genetics*; D003072:Cognition Disorders / Q000209:etiology*; D017034:Epilepsy, Frontal Lobe / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D010375:Pedigree; D010649:Phenylalanine / Q000235:genetics; D017286:Polysomnography; D011978:Receptors, Nicotinic / Q000235:genetics*; D012694:Serine / Q000235:genetics; D055815:Young Adult
chemical_list: D010649:Phenylalanine; D011978:Receptors, Nicotinic; D012694:Serine