Novel genetic findings in an extended family pedigree with sleepwalking

Licis, Amy; Desruisseau, David M.; Yamada, Koki; Duntley, Stephen P.; Gurnett, Christina A.

doi:10.1212/wnl.0b013e318203e964

Cited by 85 publications

(37 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…36 Recently, a genetic study highlighted that sleepwalking appears to be an autosomal dominant disorder with reduced penetrance and with chromosome 20q12-q13.12 localization for a gene responsible for the disorder. 37 It should be kept in mind, however, that our results are based on subjective reports. Since ours is an epidemiologic study, we did not conduct laboratory testing with respondents to confirm diagnoses.…”

Section: Resultsmentioning

confidence: 99%

Prevalence and comorbidity of nocturnal wandering in the US adult general population

Mahowald²,

et al. 2012

View full text Add to dashboard Cite

Objective: To assess the prevalence and comorbid conditions of nocturnal wandering with abnormal state of consciousness (NW) in the American general population. Methods:Cross-sectional study conducted with a representative sample of 19,136 noninstitutionalized individuals of the US general population Ն18 years old. The Sleep-EVAL expert system administered questions on life and sleeping habits; health; and sleep, mental, and organic disorders (DSM-IV-TR; International Classification of Sleep Disorders, version 2; International Classification of Diseases-10).Results: Lifetime prevalence of NW was 29.2% (95% confidence interval [CI] 28.5%-29.9%). In the previous year, NW was reported by 3.6% (3.3%-3.9%) of the sample: 1% had 2 or more episodes per month and 2.6% had between 1 and 12 episodes in the previous year. Family history of NW was reported by 30.5% of NW participants. Individuals with obstructive sleep apnea syndrome (odds ratio [OR] 3.9), circadian rhythm sleep disorder (OR 3.4), insomnia disorder (OR 2.1), alcohol abuse/dependence (OR 3.5), major depressive disorder (MDD) (OR 3.5), obsessivecompulsive disorder (OCD) (OR 3.9), or using over-the-counter sleeping pills (OR 2.5) or selective serotonin reuptake inhibitor (SSRI) antidepressants (OR 3.0) were at higher risk of frequent NW episodes (Ն2 times/month). Conclusions:With a rate of 29.2%, lifetime prevalence of NW is high. SSRIs were associated with an increased risk of NW. However, these medications appear to precipitate events in individuals with a prior history of NW. Furthermore, MDD and OCD were associated with significantly greater risk of NW, and this was not due to the use of psychotropic medication. These psychiatric associations imply an increased risk due to sleep disturbance. Neurology ® 2012;78:1583-1589

show abstract

Section: Resultsmentioning

confidence: 99%

Prevalence and comorbidity of nocturnal wandering in the US adult general population

Mahowald²,

et al. 2012

View full text Add to dashboard Cite

show abstract

“…Twin studies have shown higher concordance for sleepwalking in monozygotic than dizygotic twins ( 100 ). Based on the study of a four-generation family, Licis et al ( 106 ) described the first genetic locus for sleepwalking at chromosome 20q12-q13.12 and suggested an autosomal dominant trait with reduced penetrance.…”

Section: Nocturnal Frontal Lobe Epilepsy (Nfle) As the Epilepsy Of Thmentioning

confidence: 99%

Sleep and Epilepsy Link by Plasticity

Halász

Szücs

2020

Front. Neurol.

View full text Add to dashboard Cite

We aimed to explore the link between NREM sleep and epilepsy. Based on human and experimental data we propose that a sleep-related epileptic transformation of normal neurological networks underlies epileptogenesis. Major childhood epilepsies as medial temporal lobe epilepsy (MTLE), absence epilepsy (AE) and human perisylvian network (PN) epilepsies - made us good models to study. These conditions come from an epileptic transformation of the affected functional systems. This approach allows a system-based taxonomy instead of the outworn generalized-focal classification. MTLE links to the memory-system, where epileptic transformation results in a switch of normal sharp wave-ripples to epileptic spikes and pathological high frequency oscillations, compromising sleep-related memory consolidation. Absence epilepsy (AE) and juvenile myoclonic epilepsy (JME) belong to the corticothalamic system. The burst-firing mode of NREM sleep normally producing sleep-spindles turns to an epileptic working mode ejecting bilateral synchronous spike-waves. There seems to be a progressive transition from AE to JME. Shared absences and similar bilateral synchronous discharges show the belonging of the two conditions, while the continuous age windows - AE affecting schoolchildren, JME the adolescents - and the increased excitability in JME compared to AE supports the notion of progression. In perisylvian network epilepsies - idiopathic focal childhood epilepsies and electrical status epilepticus in sleep including Landau-Kleffner syndrome - centrotemporal spikes turn epileptic, with the potential to cause cognitive impairment. Postinjury epilepsies modeled by the isolated cortex model highlight the shared way of epileptogenesis suggesting the derailment of NREM sleep-related homeostatic plasticity as a common step. NREM sleep provides templates for plasticity derailing to epileptic variants under proper conditions. This sleep-origin explains epileptiform discharges' link and similarity with NREM sleep slow oscillations, spindles and ripples. Normal synaptic plasticity erroneously overgrowing homeostatic processes may derail toward an epileptic working-mode manifesting the involved system's features. The impact of NREM sleep is unclear in epileptogenesis occurring in adolescence and adulthood, when plasticity is lower. The epileptic process interferes with homeostatic synaptic plasticity and may cause cognitive impairment. Its type and degree depends on the affected network's function. We hypothesize a vicious circle between sleep end epilepsy. The epileptic derailment of normal plasticity interferes with sleep cognitive functions. Sleep and epilepsy interconnect by the pathology of plasticity.

show abstract

“…As we did not perform a spectral EEG analysis, it is not possible to evaluate whether the homeostatic sleep drive is intact or increased in sleepy vs. non-sleepy sleepwalkers. The heritability of sleepwalking is high, especially in adults [19], and a genetic locus for sleepwalking has been found at chromosome 20q12-q13.12 in a multiplex family [20], suggesting that allelic variants may underlie the presence of sleepwalking and sleep terrors. Once these variants will be found, it will be interesting to study whether they are different in sleepy vs. non-sleepy patients.…”

Section: ----------------------------------------mentioning

confidence: 99%