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Gian Luigi Gigli

Publications and source records attributed to Gian Luigi Gigli.

17 recordsLinked to original sources
PubMed2025

Post-traumatic stress disorder and REM-sleep behavior disorder: exploring genetic associations and causal links.

OBJECTIVE: To explore potential genetic and/or causal associations between Post-Traumatic Stress Disorder and neurodegeneration-related isolated/idiopathic rapid-eye-movement sleep behavior disorder. METHODS: We conducted polygenic risk score, genetic correlation, and Mendelian randomization analyses using the latest genome-wide association studies summary statistics and individual genotyping data. Next, a blinded observer examined dopamine transporter imaging binding status-a marker of neurodegeneration-in patients with isolated/idiopathic rapid-eye movement sleep behavior disorder, with (N = 6) and without Post-Traumatic Stress Disorder (N = 32). RESULTS: Polygenic risk scores for Post-Traumatic Stress Disorder were associated with isolated/idiopathic rapid-eye-movement sleep behavior disorder, with each standard deviation increase linked to 14.7% higher odds (odds ratio = 1.15, 95% confidence interval: 1.04 to 1.26, p = 0.005). However, genetic correlation was weak, and Mendelian randomization did not support a potential causal relationship. The proportion of individuals with abnormal dopamine transporter imaging binding status was significantly higher in the Post-Traumatic Stress Disorder group compared to those without the disorder (p=0.01, X2 = 6.62). INTERPRETATION: Polygenic risk scores analysis identified an association between Post-Traumatic Stress Disorder and neurodegeneration-related isolated/idiopathic rapid-eye-movement sleep behavior disorder, consistent with the result from the small exploratory substudy. The lack of strong genetic correlation or causation may reflect limited sample size. Further research with larger and more diverse cohorts is crucial to clarify the genetic, biological and physiological mechanisms underlying this association.

Journal Article↗
PubMed2006

Panic disorder or epilepsy? A case report.

Psychiatric and neurological disturbances can show up with panic attack symptoms. This report illustrates the difficulty in distinguishing between panic disorder and epilepsy in a subgroup of epileptic patients that suffer panic attacks as symptoms of seizures. This is the first report of panic attacks due to a focal lesion involving the left temporal lobe and the second case of panic attacks related to a meningioma.

Adult↗
PubMed2006

Sensory gating deficit assessed by P50/Pb middle latency event related potential in Alzheimer's disease.

Sensory gating is defined as the brain's ability to inhibit repetitive and irrelevant incoming sensory stimuli and is supposed to be related to cholinergic transmission. Indeed, Alzheimer's disease (AD) is characterized by a cholinergic deficit that is believed to be involved in cerebral cortex hyperexcitability and short latency afferent inhibition deficit. Therefore, a sensory gating deficit may be supposed present in AD within the frame of cortex hyperexcitability and loss of cortex modulation of sensory inputs. The authors investigated whether a sensory gating deficit may be present in AD and whether this deficit may be related to the presence of neuropsychiatric symptoms (NPS) and reversed by donepezil treatment. Sensory gating was evaluated using a paired-stimulus auditory P50 event-related potential paradigm. Eighteen drug-naïve probable AD patients (mean age 76.1 years; SD 5.6 years; 13 females and 5 males) and 15 healthy elderly controls (mean age 74.2 years; SD 5.4 years; 10 females and 5 males) were recruited. Sensory gating was evaluated in AD patients before starting therapy and after 1 and 3 months of donepezil treatment. Auditory P50 sensory gating was impaired in AD patients but no correlation was found between gating deficit and NPS. Moreover, AD patients displayed increased P50 amplitude when compared with healthy elderly subjects. Donepezil treatment did not improve P50 sensory gating in AD patients but decreased P50 amplitude. Patients with AD displayed an augmented P50 amplitude, in accordance with previous studies, suggesting increased cortex excitability. Donepezil does not affect P50 sensory gating but reduces P50 amplitude. Donepezil may induce P50 amplitude reduction by means of enhanced dopamine release. Indeed, it has been demonstrated that donepezil induces dopamine release "in vitro." The findings suggest that AD patients have a sensory gating impairment but the link with both NPS and the cholinergic deficit is doubtful.

Acoustic Stimulation↗
PubMed2006

Absence of postexercise and delayed facilitation of motor cortex excitability in restless legs syndrome: evidence of altered cortical plasticity?

STUDY OBJECTIVE: Restless legs syndrome (RLS) is a neurologic disorder with well-defined clinical and diagnostic criteria but the pathophysiology of which is unclear. Previous studies have suggested alterations in motor cortex function in RLS. We aimed to compare motor cortex plasticity in subjects with RLS versus healthy controls. DESIGN: Biphasic single-pulse transcranial magnetic stimulation (TMS) of the nondominant hemisphere was used to define motor evoked potential (MEP) amplitude, motor threshold, and silent period. Subjects also performed 3 blocks (30-s, 60-s, and 90-s duration) of a bimanual motor task (exercise condition). Amplitude of MEPs elicited immediately after each block, and then after a 15-minute rest period were compared with baseline. The time course of intracortical inhibition was also tested using paired-pulse TMS at 1- to 6-millisecond interstimulus intervals. SETTING: Clinical neurophysiology laboratory in a General Hospital. STUDY PARTICIPANTS: For the single-pulse TMS procedures, the RLS group included 11 patients affected by primary RLS and the control group included 11 age- and sex-matched normal subjects. For the paired-pulse TMS procedures, there were 9 patients and 6 controls. INTERVENTIONS: None. RESULTS: There were no group differences in motor threshold and MEP amplitudes, but the silent period was significantly shorter in subjects with RLS. Compared with baseline, control subjects had larger MEP amplitudes after 30 and 60 seconds of exercise and also after the rest period. In contrast, MEP amplitudes in patients with RLS were not significantly different from baseline after any of the exercise conditions or following the rest period. Patients with RLS also had decreased short-latency paired-pulse inhibition. CONCLUSIONS: Findings show abnormal motor cortex inhibition and cortical excitability differences in RLS. We suggest the possibility of alterations in movement-related cortical plasticity in RLS.

Arousal↗
PubMed2005

Sleep disorders in patients with end-stage renal disease undergoing dialysis therapy.

BACKGROUND: Many patients with end stage renal disease (ESRD) undergoing dialysis therapy suffer from sleep disturbances. The aim of this study was to investigate the prevalence of sleep disorders in a large population of uraemic patients recruited from 20 different dialytic centres in Triveneto. METHODS: 883 patients on maintenance dialysis were enrolled in the study. Demographic, lifestyle, renal and dialysis data were recorded. Renal parameters were compared with the database of the Veneto Dialysis Register. Using a self-administered questionnaire we assessed the presence of the following sleep disorders: insomnia, restless leg syndrome (RLS), obstructive sleep apnoea syndrome (OSAS), excessive daytime sleepiness (EDS), possible narcolepsy, sleepwalking, nightmares and possible rapid eye movement behaviour disorders (RBD). Moreover, in order to determine the prevalence of sleep disturbances and the possible effect of demographic or clinical data on sleep, we divided our population into two groups: with (SLEEP+) and without (SLEEP-) sleep disorders. RESULTS: The questionnaire revealed the presence of insomnia (69.1%), RLS (18.4%), OSAS (23.6%), EDS (11.8%), possible narcolepsy (1.4%), sleepwalking (2.1%), nightmares (13.3%) and possible RBD (2.3%). Eighty percent demonstrated SLEEP+, having at least one sleep disorder. Independent risk factors for sleep disorders were advanced age (P<0.001), excessive alcohol intake (P<0.04), cigarette smoking (P<0.006), polyneuropathy (P<0.05) and dialysis shift in the morning (P<0.001). CONCLUSIONS: The questionnaire showed a high presence of sleep disruption in dialytic populations. Awareness by Italian nephrologists regarding sleep disruption seems to be insufficient. Our data might help nephrologists to deal with uraemic patients with possible sleep disorders. Concerning the high prevalence of possible narcolepsy, further studies using polysomnographic records are necessary to confirm our results.

Adolescent↗
PubMed2005

Specific impairments of rule induction in different frontal lobe subgroups.

The neural correlates of inductive reasoning are still poorly understood. In order to explore them, we administered a revised version of the Brixton test, a rule attainment task, to a group of 40 patients with a focal frontal brain lesion of mixed aetiology and to 43 control subjects. To interpret an impairment on the test as suggesting an inductive reasoning deficit a number of alternative hypotheses need first to be considered, namely whether the Brixton impairment could be explained by: (i) a working memory deficit; (ii) a monitoring deficit; (iii) a difficulty in applying an already induced rule; (iv) greater impulsivity. The patients with left lateral (LL) frontal lesions were significantly impaired on the Brixton test; more importantly they were the only group in which none of the alternative hypotheses we explored proved able to explain the flawed performance. In sharp contrast, right lateral lesion patients did not make significantly more errors on the Brixton test than controls, but they produced three times more capture errors (a sign of impaired monitoring processes). The results were interpreted as suggesting functional dissociations between inductive reasoning, monitoring and working memory and a localisation of key processes for induction in left lateral frontal cortex and in right lateral cortex for monitoring and checking.

Adult↗
PubMed2004

Epidemiology and clinical features of sleep disorders in extrapyramidal disease.

Sleep disturbances are common in extrapyramidal diseases, including not only insomnia but excessive daytime sleepiness and parasomnias. In particular, complaints related to sleep are extremely common among patients affected by Parkinson's disease (PD). The underlying causes may include: patient age, associated illnesses, cognitive impairment, motor dysfunction caused by disease, neurochemical changes related to the disease, drugs, and secondary psychological responses to the disease. The exact prevalence of sleep disorders in PD is difficult to ascertain, due to the heterogeneity of patients as well as to the different criteria and methods used to diagnose and classify sleep disturbances. In this study, we will attempt to review the epidemiological data and to describe the various sleep disorders, which have been identified in extrapyramidal diseases, with particular reference to PD. There are no data available at present as to the role of gender in sleep disturbances. Finally, the benefit of sleep on extrapyramidal diseases will be addressed, taking into account that the above causes may modify the effects of sleep.

Aging↗
PubMed2004

Motor cortex excitability in restless legs syndrome.

BACKGROUND AND PURPOSE: A review of the literature shows that the transcranial magnetic stimulation (TMS) is a useful neurophysiological tool to investigate the pathophysiology of the restless legs syndrome (RLS). In this study we used TMS to define motor cortical excitability in RLS subjects. PATIENTS AND METHODS: Six RLS patients and two healthy control subjects underwent TMS (single and paired) examination using two protocols: (1) the evaluation of motor cortical excitability changes occurring at various times after a repetitive finger movement task; (2) the evaluation of the time course of intracortical motor activity tested with pairs of magnetic stimuli applied at inter-stimulus intervals of 1-6 ms. RESULTS: Subjects affected by RLS do not show the normal fluctuations of motor cortical excitability usually found after a bimanual finger movement task. The intracortical inhibition was reduced in RLS subjects. CONCLUSIONS: These results compared with the other studies suggest a modification in the central circuits and suppose a reduction or alteration in the cortical plasticity.

Case-Control Studies↗
PubMed2004

Restless legs syndrome in end-stage renal disease.

BACKGROUND AND PURPOSE: Patients undergoing dialysis therapy due to end-stage renal disease (ESRD) present a high prevalence of sleep disorders, including restless legs syndrome (RLS). However, the known data generally have been obtained from relatively small patient samples, coming from single or very few dialysis units. Moreover, some data were collected prior to the recent improvements in dialysis techniques, pharmacological therapies and to the establishment of internationally recognised diagnostic criteria for RLS. PATIENTS AND METHODS: In order to study the incidence of the different sleep disorders, and of RLS in particular, in a large population of dialysis patients, a questionnaire was administered to all the patients in dialysis units of the 'Triveneto' area (Italy) who agreed to participate. The first part of the questionnaire included questions about demographic data, general medical history, history of renal disease, dialytic treatment and pharmacological therapy. The second part, which was self-administered, explored the patient's complaints about sleep, the presence of the minimal International Restless Legs Syndrome Study Group (IRLSSG) criteria for the diagnosis of RLS, the Epworth Sleepiness Scale and questions particularly related to somnolence. Patients whose responses indicated a diagnosis of RLS according to the IRLSSG criteria were requested to answer the 10 questions of the IRLSSG Severity Scale. The same group of patients was compared to those who did not fulfil any of the four minimal criteria for RLS. Statistical analysis was performed by using ANOVA and non-parametric tests. Whenever possible, data were compared with the database of the Veneto Dialysis Register. The first 601 consecutive questionnaires that we were able to analyse are presented in this paper. RESULTS: Applying the IRLSSG criteria for the diagnosis, the percentage of RLS patients in our sample was 21.5%, with a score of 20.5+/-8.7 on the IRLSSG Severity Scale. Comparing patients who are definitely affected by RLS (n=127) with unaffected patients (n=280), we found that the two groups did not differ as to age, sex, weight, body mass index (BMI), and intake of nicotine, alcohol and caffeine. Similarly, the two groups did not differ as to the etiology of ESRD, type of dialysis or percentage of previous transplantations; however, the period of dialysis dependence was significantly lower in the group negative for RLS. The use of drugs did not differ in the two groups, except for lower intake of phosphorus binders and antihypertensive drugs among RLS patients. No patient was receiving specific treatment for RLS. RLS patients reported more fragmented, less restful nightly sleep and more daytime somnolence, more often presented symptoms of other sleep disorders and were more affected by anxiety or depression. CONCLUSIONS: The high prevalence of RLS and other sleep disorders among uremics requires careful investigation of nocturnal sleep; although often underdiagnosed, correct identification of these disorders can lead to better therapy and improvement of clinical conditions and quality of life. Sleep fragmentation and sleep deprivation caused by RLS may contribute to the cardiovascular complications and infections, often with bad prognosis in dialysis patients.

Aged↗
PubMed2004

Foreword.

Explore the source record for details and available documents.

Humans↗
PubMed2004

The withdrawal of nutrition and hydration in the vegetative state patient: societal dimension and issues at stake for the medical profession.

The withdrawal of assisted nutrition and hydration (ANH) is increasingly supported by scientific societies, by hospitals and by some families, once the condition of vegetative state could be considered permanent. In the first part of this article, the authors present the factors used to support the decision to withdraw ANH: a) the prognostic evaluation about outcome transformed into a clinical diagnosis of permanency; b) basic health care transformed into a medical treatment, subject to refusal by the patient; c) the human life (an undisposable good) transformed into a disposable one, open to decisions made by surrogates; d) the evaluations about quality of life transformed into judgments about the indignity of human life to be lived. In the second part, the authors outline the changes that this attitude can provoke in the integrity and the juridical status of the medical and nursing professions, and its potential impact on the society at large.

Attitude to Death↗
PubMed2003

Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.

We have recently mapped a new rare form of spastic paraplegia complicated by bilateral cataracts, gastroesophageal reflux with persistent vomiting, and amyotrophy to chromosome 10q23.3-q24.2. This locus, named SPG9, is located in an interval spanning about 12 cM of genomic DNA, between markers D10S536 and D10S603, where different neurological disorders have been mapped. In particular, a gene for partial epilepsy has been assigned to a 3 cM interval between markers D10S185 and D10S577, which is completely included in the SPG9 critical region. A few families affected with spastic paraplegia and epilepsy have been reported; in the present study, we tested a pedigree with concurrence of spastic paraplegia, epilepsy, and mental retardation inherited as an autosomal dominant trait, using markers located in the SPG9 interval. Haplotype reconstruction excluded the linkage to 10q23.3-q24.2. In addition, the seven different loci so far reported to be associated with autosomal dominant pure forms of spastic paraplegia have been tested and excluded by linkage analysis and haplotype reconstruction, including SPG4 on chromosome 2p22-p21, where a familial form of spastic paraplegia associated with dementia and epilepsy has been mapped. These data confirm genetic heterogeneity in familial spastic paraplegia with epilepsy and suggest a specific locus for the family here analyzed.

DNA↗