Showing papers in "Neurological Sciences in 2002"
TL;DR: Collecting normative values in an Italian normal population sample for the direct copying and delayed reproduction of the Rey-Osterrieth complex figure test revealed significant effects of age and education on performance of both copying tasks, whereas sex appeared to affect only performance on the delayed copying task.
Abstract: The Rey-Osterrieth complex figure test (ROCF) is a neuropsychological test extensively used in clinical practice to investigate visuospatial constructional functions, visuographic memory and some aspects of planning and executive function. The aim of the present study was to collect normative values in an Italian normal population sample (n=280) for the direct copying and delayed (10 min) reproduction of the ROCF. Multiple regression analysis revealed significant effects of age and education on performance of both copying tasks, whereas sex appeared to affect only performance on the delayed copying task. Inferential cut-offs have been determined and equivalent scores computed. The availability of equivalent scores for the ROCF will prove useful in clinical assessment since it allows the comparison of a subject's performance on the ROCF with that on other neuropsychological tests for which normative values collected with similar methods are already available for the Italian population.
609 citations
TL;DR: Donezepil was overall well tolerated, but a deterioration in motor disability was noted in 2 out of 8 patients, andHallucinations and delusions improved significantly in all patients.
Abstract: As cholinergic mechanisms may be at least partially responsible for hallucinations and delusions in Parkinson’s disease (PD), we conducted an open study in 8 PD patients to assess the efficacy and tolerability of the cholinesterase inhibitor donepezil, 5 mg at bedtime for two months, in the treatment of these complications. Hallucinations and delusions improved significantly in all patients. Donezepil was overall well tolerated, but a deterioration in motor disability was noted in 2 out of 8 patients.
139 citations
TL;DR: The ability to produce large amounts of macrophage-secreted myogenic factor(s) in the absence of serum holds great promise for its biochemical characterization and successive application in therapeutic protocols, both for ex vivo gene therapy and for muscle repair.
Abstract: In this work we set out to determine if the murine macrophage J774 cell line can be used to produce myogenic growth factors. Activated J774 macrophages were grown in serum-free conditions. The macrophage-conditioned medium (MCM) was then used to treat cultures of primary myoblasts and regenerating muscle tissue, in vitro and in vivo respectively. MCM activity in vitro was tested by analyzing the expression of muscle-specific transcription factors, in parallel with the proliferation and differentiation rates of the cells. The macrophage-secreted factors greatly enhanced the proliferative potential of both rat and human primary myoblasts and were found to be highly muscle-specific. In vivo, MCM administration markedly enhanced the regenerative processes in damaged muscles. The ability to produce large amounts of macrophage-secreted myogenic factor(s) in the absence of serum holds great promise for its biochemical characterization and successive application in therapeutic protocols, both for ex vivo gene therapy and for muscle repair.
130 citations
TL;DR: The results show that abnormal vision and abnormal P300 did not correlate with the incidence of hallucinations, however, the presence of REM sleep behavioral disorder (RBD) was significantly related to the development of hallucinations.
Abstract: We describe the 8-years follow-up of 80 patients affected by idiopathic, L-dopa-responsive Parkinson's disease. All patients were evaluated at baseline and during the follow-up with visual evoked potential, P300 event related potentials and polysomnography. The patients and their relatives compiled sleep and hallucination questionnaires. Statistical analysis was performed to evaluate if visual abnormalities, abnormal P300 recordings or sleep disturbances were linked to the development and hallucinations. Our results show that abnormal vision and abnormal P300 did not correlate with the incidence of hallucinations. However, the presence of REM sleep behavioral disorder (RBD) was significantly related to the development of hallucinations,independently of age, gender or duration of disease but dependent on the amount of dopaminoagonist treatment.
122 citations
TL;DR: A lack of association between exposure to general anesthesia and AD is revealed and Prospective epidemiological studies are needed in order to investigate levels of exposure to anesthesia, as well as any possible relationships between anesthetic exposure and genetic factors.
Abstract: Aretrospective hospital-based case-control study was performed with the aim to evaluate the association between exposure to anesthesia and Alzheimer's disease (AD). A total of 115 AD patients, 230 Parkinson's disease (PD) patients and 230 patients with non-degenerative neurological disease were studied. Each AD case was matched for sex, age (+/-3 years) and geographic area of residence with four controls (2 PD patients and 2 with other neurological disease). Information about exposure to general anesthesia and other variables was gathered through hospital records. No associations were found between the risk of AD and the exposure to anesthesia in the 1 and 5 years preceding disease onset, nor between the risk of AD and the number of surgical operations. A significant difference was observed between the mean age of AD patients and controls undergoing surgical procedures. The present study reveals a lack of association between exposure to general anesthesia and AD. Prospective epidemiological studies are needed in order to investigate levels of exposure to anesthesia, as well as any possible relationships between anesthetic exposure and genetic factors (e. g. APOEepsilon4 genotype).
119 citations
TL;DR: A regular assessment on swallowing abilities in patients with IPD is warranted in the clinical setting because with simple dietary advice and a short rehabilitative training, the quality of life in these patients can be improved.
Abstract: Dysphagia is a frequent symptom in parkinsonism, but it is less commonly reported by patients with idiopathic Parkinson's disease (IPD), especially in the early phases. Sixty-five patients with IPD were questioned about symptoms of dysphagia and an objective swallowing test was administered. Reduced swallowing speed for food and complaints of food sticking in the throat, wet voice and cough after liquid intake and nocturnal sialorrhea were reported, respectively, by 35%, 20% and 15% of patients. On objective examination, oral-phase (facial, tongue and palatal musculature) abnormalities were found in 70% of patients. Lingual transfer movements, mainly propulsion, and palatal elevation were severely hypokinetic. Wet voice after liquid intake and cough reflex after solid/liquid intake were detected in 40% of patients. On the other hand, severe dysphagia with frequent food aspiration and chest infections requiring antibiotics in the last 12 months was not found; cough reflex was retained in all patients. On the basis of these results, a regular assessment on swallowing abilities in patients with IPD is warranted in the clinical setting because with simple dietary advice and a short rehabilitative training, the quality of life in these patients can be improved.
112 citations
TL;DR: The view that reduced UA in MS is a primary, constitutive loss of protection against oxidative agents, which deserves further pathogenetic elucidation aimed at future therapeutic strategies is favors the view.
Abstract: Several studies indicate that patients with multiple sclerosis (MS) have low serum levels of the endogenous antioxidant uric acid (UA), although it has not been established whether UA is primarily deficient or secondarily reduced due to its peroxynitrite scavenging activity. We measured serum urate levels in 124 MS patients and 124 age- and sex-matched controls with other neurological diseases. In addition, we compared UA levels when MS patients were stratified according to disease activity (by means of clinical examination and MRI), duration, disability and course. MS patients had significantly lower serum urate levels than controls (p= 0.001). However, UA levels did not significantly correlate with disease activity, duration, disability or course. Our study favors the view that reduced UA in MS is a primary, constitutive loss of protection against oxidative agents, which deserves further pathogenetic elucidation aimed at future therapeutic strategies.
107 citations
TL;DR: In this series of 11 patients, the most common and reproducible side effects were those characterised by motor, sensorial, oculomotor and vegetative signs and symptoms, which predicted clinical efficacy in the long-term and contributed to the choice of which among the examined tracks had to be implanted with the chronic macroelectrode.
Abstract: The efficacy of deep brain stimulation of the subthalamic nucleus (STN) is dependent on the accuracy of targeting. In order to reduce the number of passes and, consequently, the duration of surgery and risk of bleeding, we have set up a new method based on direct magnetic resonance imaging (MRI) localisation of the STN. This procedure allows a short duration of the neurophysiological session (one or two initial tracks). Whenever a supplementary track is needed, the stimulation-induced side effects are analysed to choose from one of the remaining holes in Ben's gun. A good knowledge of anatomical structures surrounding the STN is mandatory to relate side effects to the actual position of the track. In our series of 11 patients (22 sides, 37 tracks), the most common and reproducible side effects were those characterised by motor, sensorial, oculomotor and vegetative signs and symptoms. Moreover, the therapeutic window (distance between the current intensity needed to obtain the best clinical effect and the intensity capable to induce side effects) predicted clinical efficacy in the long-term, and contributed to the choice of which among the examined tracks had to be implanted with the chronic macroelectrode.
96 citations
TL;DR: Antibodies to GAD (GAD-Ab) were first recognised in a patient affected by stiff-person syndrome and reported in a large number of cases with type 1 diabetes, and recently GADAb have been described in a number of patients affected by chronic cerebellar ataxia, drug-resistant epilepsy and myoclonus.
Abstract: Glutamic acid decarboxylase (GAD) is the enzyme that catalyses the production of GABA, a major neurotransmitter of the central nervous system. Antibodies to GAD (GAD-Ab) were first recognised in a patient affected by stiff-person syndrome; subsequently they were reported in a large number of cases with type 1 diabetes. Recently GADAb have been described in a number of patients affected by chronic cerebellar ataxia, drug-resistant epilepsy and myoclonus. These cases usually harbour other autoantibodies or are affected by organ-specific autoimmune diseases. The role of GAD-Ab is still unclear; the lack of experimental models makes it difficult to investigate their potential pathogenetic role. However two mechanisms have been suggested: the reduction by GAD-Ab of GABA synthesis in nerve terminals or the interference with exocytosis of GABA.
93 citations
TL;DR: Early treatment based on high-dose corticosteroids slightly accelerates spontaneous improvement in Bell's palsy, and patients returned to work earlier than controls.
Abstract: The objective of this double-blind, randomized, placebo-controlled study was to test the efficacy of high-dose prednisone, administered as early as possible, in modifying the natural progression of Bell's palsy. Sixty-two consecutive patients, enrolled within 72 hours of facial palsy onset, were assigned to high dose intravenous prednisone in combination with intramuscular polyvitaminic therapy (group A) or polyvitaminic therapy alone (group B). Clinical grading of facial muscle strength and length of absence from work were evaluated. An early worsening of facial muscle strength was observed in controls, leading to the divergence in the trends of the grading scores in the two groups; this result was not confirmed in the long-term follow-up. Treated patients returned to work earlier than controls. In conclusion, early treatment based on high-dose corticosteroids slightly accelerates spontaneous improvement in Bell's palsy.
82 citations
TL;DR: The spontaneous frequencies of micronuclei (MN) in human lymphocytes of both AD and PD patients were significantly higher than in controls.
Abstract: We investigated the presence of cytogenetic alterations in peripheral blood lymphocytes of Alzheimer's disease (AD) and Parkinson's disease (PD) patients Detection of spontaneous structural and/or numerical chromosome damage has been assessed by micronucleus (MN) assay coupled with fluorescence in situ hybridization (FISH) The cytogenetic investigation was performed on 22 AD patients, 18 PD patients, and 20 controls The spontaneous frequencies of micronuclei (MN) in human lymphocytes of both AD and PD patients were significantly higher than in controls The majority of MN was composed of whole chromosomes in AD patients, while a prevalence of MN arising from chromosome breakage was observed in PD patients Different molecular mechanisms underlie cytogenetic alterations observed in peripheral lymphocytes of AD and PD patients
TL;DR: A definition of the unclear features of depression within acute and chronic cerebrovascular disease is urgently needed because of its clinical and social impact.
Abstract: Increasing interest in depression within acute and chronic cerebrovascular pathology is justified for its clinical relevance. The scientific community strongly recommends taking into account its identification and management in efforts to reduce disability, the caregiver's burden and the social-economic impact of cerebrovascular disease. Different approaches observed in the literature review make it difficult to generalize about the evidence concerning crucial clinical issues such as diagnostic criteria, impact on functional improvement, selection or timing of depression treatment. Furthermore, the relationship between cerebral lesion location and depression is not agreed, because both hemispheres are reported as prevailing in published case series. On the other hand, vascular depression is commonly related to diffuse subcortical involvement. Because of its clinical and social impact, a definition of the unclear features of depression within acute and chronic cerebrovascular disease is urgently needed.
TL;DR: Results suggest a restrictive pattern of flow-volume loop in patients with fluctuating PD patients during “on” and “off” states of the disease.
Abstract: Respiratory dysfunction remains one of the most common causes of death in patients with complicated Parkinson's disease (PD). The aim of this study was to investigate pulmonary function in fluctuating PD patients during "on" and "off" states of the disease. We studied 12 fluctuating, non-smoking PD patients (HY all patients underwent Hoehn and Yahr scale (HY the FEV1/FVC ratio was unmodified. These results suggest a restrictive pattern of flow-volume loop in these patients.
TL;DR: It is concluded that AChE inhibitors induce different effects on CSF A ChE activity, while other CSF biomarkers are not significantly affected by treatment.
Abstract: In order to evaluate the biochemical effects of long-term treatment with inhibitors of acetylcholinesterase (AChE) in patients with Alzheimer's disease (AD), we measured the activities of AChE and butyrylcholinesterase (BuChe) and the concentrations of beta-amyloid (1-42), tau and phosphorylated tau proteins in the cerebrospinal fluid (CSF). A total of 91 patients suffering from probable AD of mild to moderate degree were treated for 6 months with donepezil (n=59), galantamine (n=15), rivastigmine (n=10), or placebo (n=7). AChE activity in CSF was significantly increased after treatment with donepezil and galantamine; the opposite was observed in the rivastigmine-treated group. Untreated patients did not show any AChE activity variation. BuChE did not show any change in any of the groups studied. Mean values of beta-amyloid(1-42), total tau and phosphorylated tau also did not vary significantly. We conclude that AChE inhibitors induce different effects on CSF AChE activity, while other CSF biomarkers are not significantly affected by treatment.
TL;DR: It is concluded that risk factors, clinical imaging variables and prognostic differences are different among ischemic stroke subtypes and that neurological status on admission and during follow-up strongly favors LAC.
Abstract: The etiology of ischemic stroke affects its prognosis, outcome and management. Our aims were to determine risk factors, clinical and imaging variables and prognostic differences in acute ischemic stroke subtypes. In this study, we prospectively investigated 264 consecutive patients with acute ischemic stroke between 1996 and 2000. All of the patients were categorized to one of four major ischemic stroke subtype based on TOAST (Trial of Org 10172 in Acute Stroke Treatment) criteria. The mean age was greater in patients with stroke of undetermined etiology (SUE). Prevalence of hypertension was higher in patients with lacunar infarct (LAC) than other subtypes. Smoking was less frequent in patients with cardioembolism (CARD). The mean infarct size was largest in patients with large artery atherosclerosis (LAA) while there were no differences in location or conversion of the infarct into hemorrhage. The proportion of the patients with milder neurological deficits at entry was higher in patients with LAC subtype. The rate of independent patients were different between subtypes: 62% in LAC, 43% in CARD, 38% in SUE, 35% in LAA at discharge ( p=0.01), and 91% in LAC, 69% in CARD, 59% in SUE, 60% in LAA at 6 months ( p<0.001). Recurrence rates were not different between groups. We conclude that risk factors, clinical imaging variables are different among ischemic stroke subtypes and that neurological status on admission and during follow-up strongly favors LAC.
TL;DR: It was confirmed that PD is clinically heterogeneous and specific patterns of onset seem to be associated with different rates of disease progression, and predictive models based on these clinical characteristics have a good sensitivity in indicating a slow disease progression but are not reliable in indicated a rapid evolution.
Abstract: Parkinson's disease is characterized by heterogeneity of clinical presentations, association of signs and symptoms, rate of progression, and response to therapy. The aim of this prospective 5-year study was to evaluate whether clinical features at onset were predictive of the subsequent progression. Two courses were identified which differed in the characteristics at onset. Slow course was characterized by earlier age at onset, lateralization of motor signs, rest tremor, and absence of gait disturbance. Rapid course presented older age, less evident lateralization of signs, predominance of bradykinesia-rigidity and gait disturbance. Our results confirmed that PD is clinically heterogeneous and specific patterns of onset seem to be associated with different rates of disease progression. Predictive models based on these clinical characteristics have a good sensitivity in indicating a slow disease progression but are not reliable in indicating a rapid evolution.
TL;DR: Electrical stimulation led to a significant improvement in motor symptoms and in the quality of life, allowing a significant reduction of dopaminergic drugs with a consequent improvement of drug-induced dyskinesias.
Abstract: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) has been shown to be an effective therapy for the treatment of advanced Parkinson's disease (PD). Fortyseven patients were bilaterally implanted for STN DBS and clinically evaluated according to the Core Assessment Program for Intracerebral Transplantations before surgery and 3, 12 and 24 months after surgery. Electrical stimulation led to a significant improvement in motor symptoms and in the quality of life, allowing a significant reduction of dopaminergic drugs with a consequent improvement of drug-induced dyskinesias. Statistical differences were observed between UPDRS parts II, III and IV values and daily levodopa dosage in the pre- and postoperative periods, while no differences were evident between the 3 postoperative conditions.
TL;DR: The psychopathological state, as assessed by the BPRS and by the CGI-S, improved significantly from baseline in both treatment groups, and the UPDRS score decreased significantly in the clozapine group, while was almost unchanged in the quetiapine groups.
Abstract: This study investigated the efficacy and safety of quetiapine versus clozapine in parkinsonian patients with dopaminergic psychosis. All patients fulfilling the inclusion criteria were randomly assigned to receive either quetiapine or clozapine. The duration of the trial was 12 weeks. The severity of psychosis was assessed using the BPRS and the Clinical Global Impression Scale-Severity subscale (CGI-S). The UPDRS III was used to monitor the progression of PD during the study period. Twenty patients, 10 on clozapine, and 10 on quetiapine, completed the study. The psychopathological state, as assessed by the BPRS and by the CGI-S, improved significantly (p<0.001) from baseline in both treatment groups. No differences were found between clozapine and quetiapine at each assessment time. The UPDRS score decreased significantly (p<0.05) in the clozapine group, while was almost unchanged in the quetiapine group.
TL;DR: A cross-sectional study with 342 medical students to identify, among a group of sleep disturbances, those which are related to minor psychiatric disorders in this population, and used a logistic regression model to determine independent factors associated with minor psychiatry disorders.
Abstract: We performed a cross-sectional study with 342 medical students (age range, 18-35 years) to identify, among a group of sleep disturbances, those which are related to minor psychiatric disorders in this population. The instruments employed for data collection were the self-reporting questionnaire (SRQ-20), the morningness/eveningness questionnaire, the Epworth sleepiness scale, and a general questionnaire regarding demographic characteristics, use of drugs, history of psychopathology, usual fall-asleep time, usual wake-up time, amount of sleep, arousal during the night, and insomnia. We used a logistic regression model to determine independent factors associated with minor psychiatry disorders. Daytime sleepiness [odds ratio (OR), 2.12; 95% CI, 1.21-3.71], arousal [OR, 4.54; 95% CI, 1.97-10.47], insomnia [OR 2.45; 95% CI, 1.32-4.56], and sleeping less than 7 hours per night [OR, 2.02; 95% CI, 1.11-3.67] were associated with minor psychiatric disorders. This group of variables determined a cumulative risk ratio of 5.47 [95% CI, 2.87-10.41] for the main outcome.
TL;DR: It is suggested that during long-term treatment, lighter PD patients, especially women, may receive a greater cumulative dosage of levodopa per kilogram of body weight, which could explain gender differences for the development oflevodopa-induced peak-dose dyskinesias observed during the course of the disease.
Abstract: We conducted a pharmacokinetic study in 164 patients with sporadic Parkinson's disease (PD) to address the relationship between body weight and levodopa pharmacokinetics. Patients underwent an oral acute levodopa test with 250 mg levodopa and pharmacokinetic variables were further assessed. Plasmatic levodopa area under the curve (AUC-l) and body weight were significantly and inversely correlated. Women were significantly lighter and more dyskinetic than men, and had greater AUC-l values. Our data suggest that during long-term treatment, lighter PD patients, especially women, may receive a greater cumulative dosage of levodopa per kilogram of body weight. This could explain gender differences for the development of levodopa-induced peak-dose dyskinesias observed during the course of the disease.
TL;DR: Norms were calculated taking into account demographic variables such as age, sex and education and adjusted scores were used to determine inferential cut-off scores and to compute equivalent scores.
Abstract: Tests of famous face recognition and naming, and tasks assessing semantic knowledge about famous people after presentation either of their faces or their names are often used in the neuropsychological examination of aphasic, amnesic and demented patients. A total of 187 normal subjects took part in this study. The aim was to collect normative data for a newly devised test including five subtests: famous face naming, fame judgement after face presentation and after name presentation, semantic knowledge about famous people after face presentation and after name presentation. Norms were calculated taking into account demographic variables such as age, sex and education and adjusted scores were used to determine inferential cut-off scores and to compute equivalent scores. Multiple regression analyses showed that age and education influenced significantly the performance on most subtests, but sex had no effect on any of them. Scores of the subtest evaluating fame judgements after name presentation were significantly influenced only by education. The only subtest whose scores were not influenced by any demographic variable was fame judgement after face presentation.
TL;DR: The increased use of IVIg in the treatment of autoimmune disorders outlined the issue of tolerability and recent understanding aboutIVIg composition and mechanism of action can explain its therapeutic effect in autoimmune and inflammatory disorders.
Abstract: The first use of immunoglobulin therapy, historically, was in 1890 when Emil von Behring developed effective antiserum against diphtheria toxin, but only in the early 1970s technological advancements in the fractionation of plasma lead to the production of Ig preparations which could be administered intravenously. Intravenous Ig products are a mainstay for disorders such as: primary immunodeficiency, serious infections, autoimmune and inflammatory disorders. During autoimmune and systemic inflammatory disease IVIg exhibits a number of immune modulatory activities such as: Fc Receptor-mediated effects, modulation of complement, modulation of cytokine production, superantigens neutralization, antibodies neutralization by idiotype network, increased catabolism of IgG, but also biologic effects of other molecules present in IVIg preparations. Recent understanding about IVIg composition and mechanism of action can explain its therapeutic effect in autoimmune and inflammatory disorders. Nevertheless it is important to underline that IVIg is a heterogeneous product and it is difficult to determine the exact mechanism of its activities in every disease. The increased use of IVIg in the treatment of autoimmune disorders outlined the issue of tolerability. Undesiderable effects to IVIg occurs in less than 5% of patients.
TL;DR: Midazolam is an effective and safe drug to control RGCSE, and may represent a substantial improvement over current therapeutic approaches such as pentobarbital anesthesia.
Abstract: We studied the efficacy and safety of midazolam given as a continuous infusion in the treatment of refractory generalized convulsive status epilepticus (RGCSE). We carried out a prospective, open study, in 19 patients (11 men) with RGCSE in the intensive care unit at Firat Medical Center in Elazig. When intravenous administration of 0.3 mg/kg diazepam (three times at 5-min intervals), 20 mg/kg phenytoin, and 20 mg/kg phenobarbital failed to bring the episode under control, patients were administered an intravenous bolus of midazolam (200 μg/kg) followed by a continuous infusion at 1 μg/kg min. The dose was increased by 1 μg/kg min every 15 min until the episode of seizure was brought under control. The time from beginning of treatment to control of seizures, infusion rate, and side-effects were monitored. The mean age of the patients was 40.4 years (range 16–87 years). The clinical etiology of RGCSE was idiopathic epilepsy (6 cases), anoxicischemic cerebral insult due to cardiac arrest (3), viral encephalitis (2), intrahemispheric hematoma due to hemorrhagic stroke (1), cerebral infarct due to ischemic stroke (1), pituitary adenoma (1), post-traumatic epilepsy (1), renal failure (1), tuberculous meningitis (1), and unknown (2). In eighteen (94.7%) patients, seizures were completely controlled in a mean time of 45 min (range, 5–120 min) at a mean infusion rate of 8 μg/kg min (range, 3–21 μg/kg min). In one patient seizures did not stop. Midazolam administration did not cause any significant change in blood pressure, heart rate, oxygen saturation, or respiratory status. The mean time to full consciousness for patients after stopping the infusion was 1.6 hours (range, 2.0–8.5 hours). The mean infusion duration of midazolam was 14.5 hours (range, 12–25 hours). Midazolam is an effective and safe drug to control RGCSE, and may represent a substantial improvement over current therapeutic approaches such as pentobarbital anesthesia.
TL;DR: Although IVIg may represent a valuable resource in some drug-refractory epilepsies and its effectiveness has important pathogenetic implications, controlled studies with the systematic monitoring of immunological markers are needed to define more precise indications and to optimize the administration protocols.
Abstract: The use of immunoglobulin (IVIg) in intractable epilepsy is one of its oldest applications in medicine, starting from the empirical observation of its beneficial effect on seizures. Immune system dysfunction may play a role in epilepsy by triggering, maintaining or, unexpectedly, improving intractable seizures. Several laboratory and clinical investigations are in favor of an immunological basis for different forms of experimental and human epilepsies. A wide range of immune abnormalities have been reported, suggesting the existence of different subtypes of epileptic syndromes with different abnormalities of the immune system. In this view, IVIg with its broad immunomodulatory mechanism of action could be effective in different forms of immune-dysregulated intractable epilepsies. Non-immunological mechanisms of action have been also suggested, based either on human epilepsy data or on animal experimental data. The possible anticonvulsant properties and the ability of IVIg to interfere with the final common pathway of seizures at a cellular level, with a significant increase in seizure threshold, have been demonstrated in different experimental epilepsy model. Although IVIg may represent a valuable resource in some drug-refractory epilepsies and its effectiveness has important pathogenetic implications, controlled studies with the systematic monitoring of immunological markers are needed to define more precise indications and to optimize the administration protocols.
TL;DR: Virtual reality (VR) describes the alterations of the motor plans in PD by a point of view different from the clinical one, by testing“pure” mental sequences of the execution of a movement, without the interference of motor disability.
Abstract: Patients with Parkinson's disease (PD) create behavioral motor strategies by using external cues to facilitate their movements. Virtual reality (VR) could work as an external stimulus in order to explore the motor plans by means of creation of mental images. We tested 2 women with PD aged 68 and 69 years, and 10 normal control subjects. Patients underwent a neuropsychological assessment to evaluate cognitive abilities involved in the tasks required by the VR session. VR environment reproduces common daily activities situations at home, such as eating or using the bathroom. VR describes the alterations of the motor plans in PD by a point of view different from the clinical one, by testing "pure" mental sequences of the execution of a movement, without the interference of motor disability.
TL;DR: Recruiting new families will help cloning the defective genes at PARK6 and PARK7 loci and contribute to unraveling the pathogenesis of AREP, and it is also expected to foster the understanding of molecular events underlying classic Parkinson's disease.
Abstract: Autosomal recessive, early onset parkinsonism (AREP) is genetically heterogeneous. Mutations in the parkin gene (PARK2 locus, chromosome 6q) account for up to 50% of AREP families. The parkin protein displays ubiquitin-ligase activity for different targets, which accumulate in the brain of patients with parkin defect and might cause neurodegeneration. Two new AREP loci (PARK6 and PARK7) have been recently mapped on chromosome 1p and confirmed in independent datasets, suggesting that both might be frequent. The three AREP forms display similar clinical phenotypes. Recruiting new families will help cloning the defective genes at PARK6 and PARK7 loci. This will contribute to unraveling the pathogenesis of AREP, and it is also expected to foster our understanding of molecular events underlying classic Parkinson's disease.
TL;DR: In two patients with possible progressive supranuclear palsy, AEO worsened after increasing levodopa dosage or acute apomorphine challenge and disappeared followinglevodopa discontinuation, suggesting AEO developing in the setting of a parkinsonian syndrome may be either disease- or drug-related.
Abstract: We ascertained the prevalence of apraxia of eyelid opening (AEO) in a community located in Puglia, a region of southern Italy. The crude prevalence rate was 59 per million (95% confidence interval, 24-173). AEO coexisted with adult onset blepharospasm in 75% of cases, with atypical parkinsonism in 25% of cases. Among the overall patient population seen at our movement disorders clinic from 1987 to 1997, AEO was isolated in 10 otherwise healthy individuals, associated with adult-onset dystonia in 13 cases, and associated with a parkinsonian syndrome in 9 cases. The frequency of AEO was 10.8% in the dystonia group, and 2.1% in the overall parkinsonian group (Parkinson's disease, 0.7%; progressive supranuclear palsy, 33.3%). In two patients with possible progressive supranuclear palsy, AEO worsened after increasing levodopa dosage or acute apomorphine challenge and disappeared following levodopa discontinuation. AEO developing in the setting of a parkinsonian syndrome may be either disease- or drug-related.
TL;DR: The development and validation of an outcome measure for patients with myasthenia gravis (MG) and show the correlation of the items with conventional MG measurements and the MGQ appeared reliable, sensitive and reproducible.
Abstract: We describe the development and validation of an outcome measure for patients with myasthenia gravis (MG) and show the correlation of the items with conventional MG measurements. In stage I, item generation, a group of methodologists, clinical experts generated a list of 56 items. The list was based on (1) a previous study on an MG sample, (2) clinical experience and (3) items proposed by MG patients. In stage 2, reduction of items, the list was reduced on the basis of results from field testing (41 patients completed the 56-item questionnaire). In stage 3, reliability and validity were assessed. A 25-item MG questionnaire (MGQ) was generated. Results were related to conventional measures of MG severity. Furthermore, the MGQ appeared reliable, sensitive and reproducible. The questionnaire was validated as an outcome measure.
TL;DR: The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM, and PARK6 appears to be an important locus for ARJP in Europe.
Abstract: The Parkin gene is responsible for about 50% of autosomal recessive juvenile parkinsonism (ARJP) and less than 20% of sporadic early onset cases. We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries. These families share some clinical features with the European Parkin-positive cases, with a wide range of ages at onset and slow progression. However, features typical of ARJP, such as dystonia and sleep benefit, were not observed, making the clinical presentation of late-onset cases indistinguishable from that of idiopathic PD. The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe.
TL;DR: In 13 consecutive Parkinson's cases, intraoperative recording and stimulation verified bilateral electrode implantation guided by fused T2 images, and in 85% of sides, final implantation opted for visualised target track.
Abstract: A novel multiple, sequential image fusion (MuSIF) procedure merging stereotaxic CT with frameless magnetic resonance imaging (MRI) is used since June 2000 to visualise and directly localise the subthalamic nucleus (STN) on T2 images. In 13 consecutive Parkinson's cases, intraoperative recording and stimulation verified bilateral electrode implantation guided by fused T2 images. In 85% of sides, final implantation opted for visualised target track. Implanted electrode position on postoperative T2 images matched planned target. Clinical follow-up reproduces literature's best results. This MuSIF technique, effective for direct STN targeting, has practical advantages: MRI can be performed regardless of surgery time; regular MR scanning to correct real image distortion is unneeded; and the need for multiple localising tracks is reduced by enabling us to account for each patient's STN anatomy.