A clinical and video-polysomnographic (VPS) study in 40 patients complaining of repeated abnormal nocturnal motor and/or behavioral phenomena, from 30 unrelated Italian families, is reported from the Sleep Disorders Centre and the Department of Biology and Genetics for Medical Sciences, University of Milan, Italy. A diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADFLE) was strongly suggested by electroclinical manifestations, which included nocturnal enuresis, violent behavior, and other features seen also in ’typical’ parasomnias. The VPS recordings confirmed sudden awakenings and dystonic/dyskinetic movements in 42%, complex behaviors in 13%, and violent behavior in 5%. Ictal epileptiform abnormalities and rhythmic slow activity in frontal areas were recorded on the EEG in 32% and 47% of patients, respectively. A correct diagnosis of epilepsy had been made previously in only 18%, and >80% had been misdiagnosed as parasomnia. Seizures were controlled by antiepileptic drugs in 73%. Pedigree analysis on 28 of the families showed an autosomal dominant transmission with reduced penetrance (81%). Nucleotide sequence analysis failed to uncover the missense mutation in the CHRNA4 gene previously reported, but did confirm two other base substitutions and supported the locus heterogeneity of ADFLE. [1]

COMMENT. A report of electroclinical patterns in 33 patients with autosomal dominant frontal lobe epilepsy (ADFLE), including video-polysomnographic monitoring in 12, was published by these authors in 1996 (see Progress in Pediatric Neurology III. PNB Publ, 1997, pp87-88). The present report includes further patients and a genetic analysis of the syndrome. ADFLE is often misdiagnosed as nightmares, night terrors, or somnambulism. EEGs are frequently non-specific, and video-polysomnographic monitoring is important in the differentiation of ADFLE from parasomnias. A trial of antiepileptic drugs, carbamazepine or clonazepam, is warranted when the diagnosis is suspected, particularly in patients with diurnal symptoms.

SPECT studies in ADFLE. Frontal lobe foci were unilateral and in variable locations in two patients with ADFLE reported from the Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg (Melbourne), Victoria 3084, Australia [2]. One case showed a left frontal onset corroborated by congruent focal hypometabolism on intericatal PET and focal hyperperfusion on ictal SPECT. Another case studied with ictal SPECT showed a right parasagittal, midfrontal focus.