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Giuseppe Plazzi

Publications and source records attributed to Giuseppe Plazzi.

At least 19 recordsLinked to original sources
PubMed2026

Safety, tolerability, and efficacy of alixorexton, a selective orexin 2 receptor agonist for narcolepsy type 1 (Vibrance-1): a randomised, double-blind, placebo-controlled, phase 2 trial.

BACKGROUND: The clinical potential of orexin 2 receptor (OX2R) agonism for improving measures of wakefulness and cataplexy in patients with narcolepsy type 1 has been described in a phase 2 study. Here, we aimed to evaluate the safety, tolerability, and efficacy of alixorexton, another oral OX2R agonist, in narcolepsy type 1. METHODS: In this randomised, double-blind, placebo-controlled, phase 2 trial, adult participants (aged 18-70 years) with narcolepsy type 1 were recruited from 46 hospitals and private research centres across the USA, Europe, and Australia. Participants were centrally randomly assigned (1:1:1:1) in blocks of four via an interactive response technology system stratified by region and baseline weekly cataplexy rate (WCR) to receive 4 mg, 6 mg, or 8 mg tablets of alixorexton or placebo once daily for 6 weeks, followed by an optional 7-week open-label extension. Participants had narcolepsy type 1, diagnosed per the International Classification of Sleep Disorders, Third Edition, and confirmed by overnight polysomnography and the Multiple Sleep Latency Test or cerebrospinal hypocretin-1 concentrations. The sponsor, assessors, investigators, and participants were masked during the randomised double-blind treatment period. Efficacy and safety assessments were conducted in participants who received at least one dose of study drug. The primary endpoint was change from baseline to week 6 in mean sleep latency (MSL) on the Maintenance of Wakefulness Test (MWT). Safety endpoints included treatment-emergent adverse events. This trial was registered with ClinicalTrials.gov (NCT06358950) and is completed. FINDINGS: Between May 24, 2024, and May 5, 2025, 153 individuals were screened and 92 participants were randomly assigned to receive alixorexton 4 mg (n=23), 6 mg (n=22), 8 mg (n=24), or placebo (n=23). Mean age was 33&#xb7;5 years (SD 12&#xb7;1), 57 (62%) were women, and 35 (38%) were men. At week 6, the observed MSL on the MWT was 2&#xb7;3 min (SD 2&#xb7;7) for placebo, 24&#xb7;0 min (8&#xb7;7) for alixorexton 4 mg, 25&#xb7;9 min (9&#xb7;4) for 6 mg, and 28&#xb7;2 min (11&#xb7;4) for 8 mg. Alixorexton improved MSL on the MWT, with a least-squares mean placebo-corrected change from baseline of 22&#xb7;2 min (95% CI 17&#xb7;2-27&#xb7;2) for alixorexton 4 mg, 24&#xb7;1 min (19&#xb7;0-29&#xb7;1) for 6 mg, and 26&#xb7;0 min (21&#xb7;0-31&#xb7;0) for 8 mg (adjusted p=0&#xb7;0099 for 4 mg, adjusted p<0&#xb7;0001 for 6 mg and 8 mg). Treatment-emergent adverse events occurring in at least 5% of participants given alixorexton and more frequently than those given placebo up to week 6 were pollakiuria (38 [55%]), insomnia (19 [28%]), salivary hypersecretion (17 [25%]), micturition urgency (ten [14%]), blurred vision (ten [14%]), and hyperhidrosis (five [7%]). INTERPRETATION: In this phase 2 trial, once-daily oral alixorexton provided clinically meaningful improvements at 6 weeks for participants with narcolepsy type 1, including in wakefulness, excessive daytime sleepiness, and cataplexy. The treatment was generally well tolerated, with adverse events consistent with the known on-target effects of OX2R agonists. Together, these findings support the further phase 3 evaluation of alixorexton as a potential therapeutic option for people with narcolepsy type 1. FUNDING: Alkermes.

Humans↗
PubMed2007

Augmentation of restless legs syndrome with long-term tramadol treatment.

Restless legs syndrome (RLS) augmentation, defined as a kind of suppression of the circadian rhythm of the disease in which sensory and motor symptoms appear earlier during the day (and over previously unaffected body parts), with a progressive phase advance until, backwards, the symptoms may cover the entire day, has been described only after treatment with dopaminergic drugs. We report clinical and polysomnographic accounts of a patient developing RLS augmentation after long-term treatment with tramadol, an opioid agonist with selectivity for mu-receptor and added norepinephrine and serotonin reuptake inhibition properties. Polysomnographic measures showed an improvement of RLS and a disappearance of diurnal sensory and motor RLS symptoms after tramadol was stopped. Our case confirms a recent retrospective report of augmentation of RLS after treatment with tramadol, and begs the question whether augmentation is truly restricted to dopaminergic drugs.

Aged, 80 and over↗
PubMed2006

Semantic priming effect during REM-sleep inertia in patients with narcolepsy.

Patients with narcolepsy-cataplexy (NC) present excessive daytime sleepiness (EDS), cataplexy and an altered architecture of nocturnal sleep, with frequent episodes of REM-sleep at sleep onset (SOREM-sleep). This altered organization of nocturnal sleep may be accompanied by some differences in the functioning of the cognitive processes involved in the access, organization and consolidation of information during sleep. This study attempts to ascertain whether the activation of semantic memory during REM-sleep, as measured using a technique of semantic priming (namely, the facilitation of the activation of strongly-related rather than weakly-related and, overall, unrelated pairs of prime-target words) is different in NC patients compared to normal subjects. A lexical decision task (LDT) was carried out twice in wakefulness (at 10a.m. and after a 24h interval) and twice in the period of sleep inertia following awakening from SOREM and 4th-cycle REM-sleep on 12 NC patients and from 1st- and 4th-cycle REM-sleep on 12 matched controls. Reaction time (RT) to target words, taken as a measure of the semantic priming effect, proved to be longer (a) in NC patients than in control subjects; (b) in the period of REM-sleep inertia than in wakefulness; (c) in the first rather than the second session; and (d) for unrelated compared to weakly-related and, overall, strongly-related prime-target pairs. RT in post-REM-sleep sessions was less impaired, compared to waking sessions, and less dependent on the associative strength of prime-target pairs in NC patients than in normal subjects. Finally, RT of NC patients, although longer than that of normal subjects in waking sessions, significantly improved in the second session, as a consequence of either the amount of exercise or the consolidation advantage provided by REM-sleep for the procedural components of the task. The whole picture suggests a greater effectiveness of the activation of semantic memory during (SO)REM-sleep in NC patients rather than in normal subjects, and overall for the organization of new and unexpected relationships (such as those between unrelated pairs) between items of information.

Adult↗
PubMed2006

Polysomnographic and pharmacokinetic findings in levodopa-induced augmentation of restless legs syndrome.

Augmentation, defined as a loss of circadian recurrence with progressively earlier daily onset and increase in the duration, intensity, and anatomy of symptoms, not compatible with the half-life of the drug, is associated with dopaminergic treatment in restless legs syndrome (RLS) patients. The pathogenesis of augmentation is unclear. We describe a patient with idiopathic RLS who developed augmentation after 8 months of levodopa treatment. Videopolysomnographic and pharmacokinetic studies with monitoring of plasma levodopa levels demonstrated marked motor hyperactivity during augmentation, with anarchic discharges of motor unit potentials, tonic grouped discharges and flexor spasms, associated with painful dysesthesia. Symptoms and signs of augmentation were related to low plasma levodopa levels, abating 75 minutes after oral levodopa administration and reappearing after 3 hours, closely mirroring the rapid rise and fall of plasma levodopa concentration. This case is the first report in which RLS augmentation is shown to be characterized by motor hyperkinesias paralleling levodopa plasma pharmacokinetic profile.

Aged↗
PubMed2006

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.

BACKGROUND & AIMS: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease clinically defined by gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy, white-matter changes in brain magnetic resonance imaging, and mitochondrial abnormalities. Loss-of-function mutations in thymidine phosphorylase gene induce pathologic accumulations of thymidine and deoxyuridine that in turn cause mitochondrial DNA (mtDNA) defects (depletion, multiple deletions, and point mutations). Our study is aimed to define the molecular basis of gastrointestinal dysmotility in a case of MNGIE. METHODS: By using laser capture microdissection techniques, we correlated histologic features with mtDNA abnormalities in different tissue components of the gastrointestinal wall in a MNGIE patient and ten controls. RESULTS: The patient's small intestine showed marked atrophy and mitochondrial proliferation of the external layer of muscularis propria. Genetic analysis revealed selective depletion of mtDNA in the small intestine compared with esophagus, stomach, and colon, and microdissection analysis revealed that mtDNA depletion was confined to the external layer of muscularis propria. Multiple deletions were detected in the upper esophagus and skeletal muscle. Site-specific somatic point mutations were detected only at low abundance both in the muscle and nervous tissue of the gastrointestinal tract. Analysis of the gastrointestinal tract from 10 controls revealed a non-homogeneous distribution of mtDNA content; the small intestine had the lowest levels of mtDNA. CONCLUSION: Atrophy, mitochondrial proliferation, and mtDNA depletion in the external layer of muscularis propria of small intestine indicate that visceral myopathy is responsible for gastrointestinal dysmotility in this MNGIE patient.

Adult↗
PubMed2006

The time structure of the cyclic alternating pattern during sleep.

STUDY OBJECTIVES: To analyze the intervals between A phases of the cyclic alternating pattern (CAP) and to describe their time structure. This might represent an additional aspect to be studied in sleep pathologies that are accompanied by CAP changes. METHODS: Sleep stages and CAP A phases were identified in polysomnographic night recordings of normal adults and children. Intervals between consecutive CAP A phases were measured, counted, and used to draw individual normalized distribution graphs. The intervals during light sleep (stages 1 and 2) were analyzed separately from those occurring during slow-wave sleep (SWS). Subsequently, we performed a Markovian analysis of intervals, in order to describe in detail their time structure. SETTING: N/A. PARTICIPANTS: Twenty-four adults and 28 children. MEASUREMENTS AND RESULTS: In adults, a preponderance of intervals shorter than 60 seconds during SWS was found; light sleep showed a higher number of intervals longer than 60 seconds. A less clear-cut difference between stages was found in children, who showed a shift of the peak in their SWS histogram toward intervals shorter than in adults. Interval sequences were not determined by a random process in both groups. The Markovian analysis showed statistically significant lower values of entropy and higher values of time dependency, mostly in adults during SWS. CONCLUSIONS: The different CAP components of sleep occur in a non-random ordered fashion, and their time structure is characterized by first-order relationships. SIGNIFICANCE: We postulate that CAP components are the expression of a timely ordered process that exhibits specific sleep stage-related features and undergoes age-related modifications.

Child↗
PubMed2006

Nocturnal eating: sleep-related eating disorder or night eating syndrome? A videopolysomnographic study.

STUDY OBJECTIVES: To describe the clinical and videopolysomnographic characteristics of nocturnal eating episodes in sleep-related eating disorder. DESIGN: Descriptive study of outpatients prospectively enrolled in 2 sleep centers. SETTING: Videopolysomnographic recordings done in the sleep laboratory. PATIENTS: Thirty-five consecutive drug-free patients with nocturnal eating. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Clinical interviews disclosed abnormal compulsory nocturnal eating episodes in all patients associated with a clinical report of sleepwalking (in 1), somniloquy (in 5), restless legs syndrome (in 8), and periodic limb movements during sleep (in 4). Videopolysomnography documented 45 episodes of nocturnal eating in 26 patients. Eating always occurred after complete awakenings from non-rapid eye movement sleep and only in 1 patient from REM sleep and was characterized by electroencephalographic alpha activity with no dissociated features of state-dependent sleep variables. Patients interviewed during the eating episodes were fully conscious and remembered the events the next day. Pathological periodic limb movements during sleep index was recorded in 22 and restless legs syndrome dyskinesias in 5 patients. Recurring chewing and swallowing movements during sleep were a feature in 29 patients, associated in about half of the events with electroencephalographic arousals. CONCLUSIONS: In our patients, eating episodes occurred with normal consciousness and recall. Chewing or swallowing movements during sleep occurred frequently, resembling rhythmic masticatory-muscle activity in bruxism patients. The presence of periodic limb movements during sleep and chewing activity, the reported efficacy of dopaminergic medications, and the compulsory food-seeking behavior all argue for a dopaminergic dysfunction underlying the pathogenesis of sleep-related eating disorder.

Adult↗
PubMed2006

New approaches to the study of periodic leg movements during sleep in restless legs syndrome.

STUDY OBJECTIVES: To describe a new approach for the analysis of quantity, type, and periodicity of the leg motor activity during sleep in patients with restless legs syndrome (RLS) and periodic leg movements (PLM). METHODS: The following parameters were taken into account for LM: duration, amplitude, area under the curve, sleep stage, side, interval, and bilaterality. The analysis of inter-LM intervals was carried out by drawing their distribution graphs. A new index evaluated their periodicity and was validated by means of a Markovian analysis. The differences in inter-LM intervals, LM duration, and area under the curve between normal controls and patients and between the 3 patient subgroups identified on the basis of their periodicity were statistically analyzed. SETTING: N/A. PARTICIPANTS: Sixty-five patients with RLS and periodic LM and 22 young healthy controls. MEASUREMENTS AND RESULTS: The RLS patients' inter-LM interval distribution graph showed a wide peak with a maximum located at around 15 to 30 seconds and extending from 10 to 90 seconds, not present in controls, and another peak for intervals less than 8 seconds, higher than that of controls. Three patient subgroups were identified with different proportions of these 2 peaks, periodicity, and Markovian parameters. Periodicity was not dependent on the periodic leg movement index. Patients showing the peak mainly at around 15 to 30 seconds tended to show slightly longer and higher area under the curve LM than did the other 2 subgroups. CONCLUSIONS: Our new approach seems to be useful in a new qualitative differentiation among patients with PLM, which is not possible by using the simple PLM index.

Adult↗
PubMed2005

NREM sleep alterations in narcolepsy/cataplexy.

OBJECTIVE: NREM sleep patterns of narcoleptic patients with cataplexy were studied, focusing on their sleep 'microstructure', by analyzing the cyclic alternating pattern (CAP). METHODS: Forty-nine HLA DQB1*0602-positive patients with narcolepsy/cataplexy (32 men and 17 women, aged 18-46 years) were included together with 37 age-matched normal controls. Each subject underwent one polysomnographic night recording after an adaptation night. Sleep stages were scored following standard criteria and CAP A phases were detected and classified into 3 subtypes (A1, A2, and A3). Power spectra for frequencies between 0.5 and 25 Hz were obtained for each CAP condition, separately in sleep stage 2 and SWS. RESULTS: Narcoleptic patients displayed reduced total CAP rate. A selective reduction in the number of A1 subtypes/hour and a reduced A3 index were found in narcoleptics who had also a smaller average number of CAP sequences. Narcoleptic patients had higher power spectra for fast frequencies mostly during SWS, while REM sleep power spectra showed significantly higher power density for frequency bins 0.5-1.5, 8.5-9.5, and 17.5-25 Hz. Similarly, CAP A1 subtypes and NCAP epochs during SWS displayed significantly higher power density for fast frequency bins. CONCLUSIONS: The main finding of this study is that the occurrence of the A1 CAP subtypes is impaired during NREM sleep in narcoleptic patients. Thus, narcolepsy seems to be accompanied not only by alterations of REM but also NREM sleep which is subtly but significantly impaired, as reflected by CAP and the corresponding EEG spectral analysis. SIGNIFICANCE: Our findings might indicate that in narcolepsy very-slow oscillation processes less effective than normal might be present, with a subtly impaired capability of grouping the other sleep EEG activities; this aspect deserves further insight in order to obtain a better understanding of its functional meaning.

Adult↗
PubMed2005

Continuous motor unit activity syndromes: a video-polysomnographic study.

OBJECTIVE: To ascertain the presence of abnormalities of sleep in patients with continuous motor unit activity with and without symptoms of central nervous system involvement. METHODS: Five patients with isolated neuromyotonia (Isaacs' syndrome) and 1 patient with Morvan syndrome underwent 24-h videopolysomnographic recording to investigate sleep structure, motor activities and autonomic variables during sleep. RESULTS: Macro- and microstructural organization of sleep and of the attending autonomic variables were substantially normal in patients with Isaacs' syndrome. On the contrary, sleep structure was severely disrupted with subcontinuous dream enactment and hallucinations in the patient with Morvan syndrome. The pattern of the neuromyotonic discharges, however, was not different between the patients with Isaacs' syndrome compared to Morvan syndrome, the EMG discharges persisting throughout the 24 h of recording and affecting wakefulness and sleep equally. CONCLUSIONS: Neuromyotonia is compatible with normal organization of sleep. The severe sleep abnormalities observed in Morvan syndrome cannot be simply attributed to the effects of neuromyotonia of peripheral origin. SIGNIFICANCE: Even though neuromyotonia is common to both Isaacs' and Morvan syndromes, the two conditions differ significantly in regard to CNS involvement with sleep abnormalities and lumping the two conditions together is not justified on clinical and neurophysiological grounds.

Adolescent↗
PubMed2005

Computer-assisted detection of nocturnal leg motor activity in patients with restless legs syndrome and periodic leg movements during sleep.

STUDY OBJECTIVES: To assess the performance of a new method for automatic detection of periodic leg movements during sleep. METHODS: Leg movements during sleep were visually detected in the tibialis anterior muscles recordings of 15 patients with restless legs syndrome and 15 normal controls. Leg movements were detected automatically by means of a new computer method with which electromyogram signals are first digitally band-pass filtered and then rectified; subsequently, the detection of leg movements is performed by using 2 thresholds: one for the starting point and another to detect the end point of each leg movement. Sensitivity and false-positive rate were obtained; the American Sleep Disorders Association parameters were also computed, and the results analyzed by means of the Kendall W coefficient, the linear correlation coefficient and the Bland-Altman plots. SETTING: N/A. PARTICIPANTS: Fifteen patients with restless legs syndrome and periodic leg movements and 15 controls. MEASUREMENTS AND RESULTS: High values of the Kendall W coefficient of concordance between automatic and visual analysis were found with values close to 1 and the linear correlation coefficient for leg movements index and total leg movements index was > 0.950 (p < .000001). The Bland-Altman plots provided the limits of agreement between visual and computer detection, which were -9.01 and +9.89 for the periodic leg movement index. None of the normal controls was found to have periodic leg movement indexes >5 after automatic analysis. CONCLUSIONS: Our method can be applied to the clinical evaluation of periodic leg movements during sleep, with some caution in patients with a low periodic leg movement indexes. Large-scale research application is possible and can be considered as reliable.

Adult↗
PubMed2005

Interobserver reliability of ICSD-R minimal diagnostic criteria for the parasomnias.

OBJECTIVE: To estimate the interobserver reliability (IR) of the minimal diagnostic criteria for the parasomnias provided in the International Classification of Sleep Disorders Revised (ICSD-R). METHODS: Fifty consecutive subjects underwent a structured interview by three doctors based on the ICSD-R minimal criteria for the diagnosis of 13 parasomnias at any time in life. IR was calculated by Kappa statistics and interpreted according to conventional categories. RESULTS: In the group of Arousal Disorders, IR was "substantial" (kappa 0.74) for confusional arousals, "slight" (kappa 0.36) for sleepwalking, "fair" (kappa -0.02) for sleep terrors. In the group of Wake-Sleep Transition Disorders, IR was "substantial" to "almost perfect", but "moderate" for sleep starts (kappa 0.41). In the group of Parasomnias usually associated with REM Sleep, IR was "substantial" (kappa 0.69) for sleep paralysis, "moderate" (kappa 0.46) for RBD, "fair" (kappa 0.25) for nightmares. In the group of Other Parasomnias, IR was "substantial" to "almost perfect" (kappa between 0.73 and 0.93). CONCLUSIONS: When the clinical diagnosis of parasomnias is based on the ICSD-R: 1) the majority of Arousal Disorders and REM sleep parasomnias showed only a "fair" to "moderate" IR; 2) all of the other parasomnias showed a "substantial" to "almost perfect" IR. Nosological entities with unsatisfactory IR share complex motor phenomenology associated with a mental state difficult for the patient to define. The source of disagreement probably lies in the difficulty in interpreting patients' reports. For these parasomnias IR must be verified and possibly improved with training.

Adolescent↗
PubMed2005

Propriospinal myoclonus: a motor phenomenon found in restless legs syndrome different from periodic limb movements during sleep.

Three patients presented with a 25-, 15-, and 5-year history of restless legs syndrome (RLS) and periodic limb movements during sleep (PLMS). For 1, 4, and 5 years, they reported additional involuntary trunk and limbs jerks preceding falling asleep and occasionally during intrasleep wakefulness. Videopolysomnography revealed jerks during relaxed wakefulness arising in axial muscles with a caudal and rostral propagation at a slow conduction velocity, characteristic of propriospinal myoclonus (PSM). Jerk-related EEG-EMG back-averaging did not disclose any preceding cortical potential. During relaxed wakefulness preceding falling asleep and during intrasleep wakefulness, PSM coexisted with motor restlessness and sensory discomfort in the limbs. PSM disappeared when spindles and K-complexes appeared on the EEG. At this time, typical PLMS appeared every 20 to 40 seconds, especially during light sleep stages. PLMS EMG activity was limited to leg, especially tibialis anterior muscles, and did not show propriospinal propagation. In one patient, alternating leg muscle activation was also present. Jerks with a PSM pattern represent another motor phenomenon associated with RLS and different from the more usual PLMS.

Adult↗
PubMed2005

All-night EEG power spectral analysis of the cyclic alternating pattern components in young adult subjects.

OBJECTIVE: To analyze in detail the frequency content of the different EEG components of the Cyclic Alternating Pattern (CAP), taking into account the ongoing EEG background and the nonCAP (NCAP) periods in the whole night polysomnographic recordings of normal young adults. METHODS: Sixteen normal healthy subjects were included in this study. Each subject underwent one polysomnographic night recording; sleep stages were scored following standard criteria. Subsequently, each CAP A phase was detected in all recordings, during NREM sleep, and classified into 3 subtypes (A1, A2, and A3). The same channel used for the detection of CAP A phases (C3/A2 or C4/A1) was subdivided into 2-s mini-epochs. For each mini-epoch, the corresponding CAP condition was determined and power spectra calculated in the frequency range 0.5-25 Hz. Average spectra were obtained for each CAP condition, separately in sleep stage 2 and SWS, for each subject. Finally, the first 6h of sleep were subdivided into 4 periods of 90 min each and the same spectral analysis was performed for each period. RESULTS: During sleep stage 2, CAP A subtypes differed from NCAP periods for all frequency bins between 0.5 and 25 Hz; this difference was most evident for the lowest frequencies. The B phase following A1 subtypes had a power spectrum significantly higher than that of NCAP, for frequencies between 1 and 11 Hz. The B phase after A2 only differed from NCAP for a small but significant reduction in the sigma band power; this was evident also after A3 subtypes. During SWS, we found similar results. The comparison between the different CAP subtypes also disclosed significant differences related to the stage in which they occurred. Finally, a significant effect of the different sleep periods was found on the different CAP subtypes during sleep stage 2 and on NCAP in both sleep stage 2 and SWS. CONCLUSIONS: CAP subtypes are characterized by clearly different spectra and also the same subtype shows a different power spectrum, during sleep stage 2 or SWS. This finding underlines a probable different functional meaning of the same CAP subtype during different sleep stages. We also found 3 clear peaks of difference between CAP subtypes and NCAP in the delta, alpha, and beta frequency ranges which might indicate the presence of 3 frequency components characterizing CAP subtypes, in different proportion in each of them. The B component of CAP differs from NCAP because of a decrease in power in the sigma frequency range. SIGNIFICANCE: This study shows that A components of CAP might correspond to periods in which the very-slow delta activity of sleep groups a range of different EEG activities, including the sigma and beta bands, while the B phase of CAP might correspond to a period in which this activity is quiescent or inhibited.

Adult↗
PubMed2005

How age influences the expression of narcolepsy.

OBJECTIVES: The aim of this study was to investigate the influence of age on the manifestation of narcolepsy symptoms and cognitive difficulties in patients with narcolepsy. METHODS: A total of 321 participants were included in the study: 157 were patients with narcolepsy from two Sleep Disorders Clinics and 164 were control participants. Narcoleptic patients were evaluated and diagnosed at the Sleep Disorders Clinic. All participants were interviewed by telephone using the Sleep-EVAL System. The interview comprised, among else, a detailed evaluation of narcolepsy symptoms and of cognitive difficulties. RESULTS: The first manifestation of the disease appeared early in life for most narcoleptic patients: 54.1% had their first symptom before the age of 20 years. Daytime sleepiness was the first symptom to appear in 65.5% of cases. In narcoleptics 60 years or older, cataplexy was more likely to be the first symptom to appear (47.4%) compared with other narcoleptic patients (21.4%; P<.05). Reported cognitive difficulties (attention-concentration, praxis, delay recall, orientation for persons, temporal orientation, and prospective memory) were higher in narcoleptic patients compared with the controls. The severity of daytime sleepiness and the presence of a major depressive disorder partly explained the cognitive difficulties. However, attention-concentration deficits and difficulties in prospective memory remained significant. Age was unrelated to cognitive difficulties in narcoleptics patients. CONCLUSIONS: The first manifestation of narcolepsy appears early in life. Reported cognitive difficulties are important in narcoleptic patients and are only partly explained by age, severity of daytime sleepiness, and major depressive disorder.

Adolescent↗
PubMed2004

Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report.

PURPOSE: To describe the ocular features of a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) due to a homozygous G1443A mutation in the thymidine-phosphorylase gene. METHODS: A case report with extensive ophthalmological investigation over a 9-year period, until death at age 38 years. Measures used included standard ophthalmological examination, visual field examination and optical coherence tomography (OCT). RESULTS: Ptosis and external ophthalmoplegia progressively worsened during the follow-up, as did the neurological and general status. Corneal and optic disc alterations were also observed at the last visit. Glaucomatous changes of the optic disc were confirmed by the visual field examination and OCT. CONCLUSION: In addition to previously described alterations such as ptosis and external ophthalmoplegia, MNGIE may be associated with glaucomatous-like optic neuropathy.

Adult↗
PubMed2004

Status dissociatus after surgery for tegmental ponto-mesencephalic cavernoma: a state-dependent disorder of motor control during sleep.

After surgery for a tegmental ponto-mesencephalic cavernoma, a patient developed sleep-related excessive fragmentary myoclonus, diffuse myoclonic jerks, simple quasipurposeful movements of the limbs, and rapid eye movement (REM) sleep behaviour disorder as motor features of status dissociatus, a condition in which elements of one state of being (wake, NREM and REM sleep) pathologically intrude into another.

Adult↗