Showing papers by "Giovanni Fabbrini published in 2007"
TL;DR: This review focuses on three issues related to Levodopa‐induced dyskinesia: clinical features, classification and rating, pathophysiology and pathogenesis, and management.
Abstract: Levodopa-induced dyskinesias (LID) are common and difficult to treat. This review focuses on three issues related to LID: clinical features, classification and rating, pathophysiology and pathogenesis, and management. The three primary clinical syndromes are OFF-period dystonia, peak-dose dyskinesia, and diphasic dyskinesia. Several other forms also occur, making the evaluation and choice of treatment complicated. A core component of the pathophysiology of LID is overactivity of the direct striatal output pathway. This pathway provides a direct GABAergic connection by which the striatum inhibits the output regions of the basal ganglia, i.e., the internal globus pallidus and the substantia nigra pars reticulata. Altering dopaminergic dosing and timing can abate dyskinesias, but usually impact the control of parkinsonism. Putative therapies to reduce the problem of dyskinesias could focus on the glutamatergic, GABAergic, alpha2 adrenergic, serotonergic (5HT1A, 5HT2A), opioid, histamine H3, adenosine A2A receptors, the monoamine transport or cannabinoid CB1 receptors systems. The only currently available drug with an evidence-based recommendation on efficacy for dyskinesia is amantadine. Therapy goals include the prevention of dyskinesia and treatment of dyskinesias that are troublesome clinically. New rating measures to assess severity and disability related to dyskinesia are in the process of development and clinimetric testing.
419 citations
Erasmus University Rotterdam1, University of São Paulo2, Universidade Federal do Rio Grande do Sul3, University of Turin4, University of Bari5, Sapienza University of Rome6, University of Verona7, University of Genoa8, University of Florence9, Radboud University Nijmegen10, University of Bologna11, Instituto Superior Técnico12
TL;DR: It is confirmed that ATP13A2 homozygous mutations are associated with human parkinsonism, and the associated genotypic and clinical spectrum is expanded, by describing a homozygOUS missense mutation in this gene in a patient with a phenotype milder than that initially associated with ATP 13A2 mutations (Kufor-Rakeb syndrome).
Abstract: Objective: To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset Methods: We studied 46 patients, mostly from Italy or Brazil, including 11 with juvenile parkinsonism and 35 with YOPD. Thirty-three cases were sporadic and 13 had positive family history compatible with autosomal recessive inheritance. Forty-two had only parkinsonian signs, while four (all juvenile-onset) had multisystemic involvement. The whole ATP13A2 coding region (29 exons) and exon-intron boundaries were sequenced from genomic DNA. Results: A novel homozygous missense mutation (Gly504Arg) was identified in one sporadic case from Brazil with juvenile parkinsonism. This patient had symptoms onset at age 12, levodopa-responsive severe akinetic-rigid parkinsonism, levodopa-induced motor fluctuations and dyskinesias, severe visual hallucinations, and supranuclear vertical gaze paresis, but no pyramidal deficit nor dementia. Brain CT scan showed moderate diffuse atrophy. Furthermore, two Italian cases with YOPD without atypical features carried a novel missense mutation (Thr12Met, Gly533Arg) in single heterozygous state. Conclusions: We confirm that ATP13A2 homozygous mutations are associated with human parkinsonism, and expand the associated genotypic and clinical spectrum, by describing a homozygous missense mutation in this gene in a patient with a phenotype milder than that initially associated with ATP13A2 mutations (Kufor-Rakeb syndrome). Our data also suggest that ATP13A2 single heterozygous mutations might be etiologically relevant for patients with YOPD and further studies of this gene in Parkinson disease are warranted.
324 citations
TL;DR: Although it was found that EDS was more frequent in migraineurs than in controls, the frequency was lower than previously reported and probably stems from the full constellation of headache-sleep-affective symptoms resulting from the complex clinical burden of the disease.
Abstract: Migraine patients often complain of sleepiness, a problem that manifests both during and outside an attack, may impair the quality of life and can lead to potentially harmful situations. Findings from an uncontrolled study suggest that a high percentage of migraineurs experience excessive daytime sleepiness (EDS). We investigated EDS in a case-control study on 100 patients with episodic migraine and 100 age- and sex-matched healthy controls and also assessed sleep quality, anxiety and depression. Although it was found that EDS was more frequent in migraineurs than in controls (14% vs. 5%; odds ratio 3.1; 95% confidence interval 1.1-8.9), the frequency was lower than previously reported. EDS correlated with migraine disability, sleep problems and anxiety. EDS in patients with migraine probably stems from the full constellation of headache-sleep-affective symptoms resulting from the complex clinical burden of the disease.
74 citations
TL;DR: The distinctive clinical features in this family of Tourette syndrome are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders.
Abstract: Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the cranio-cervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to genetic heterogeneity in TS.
32 citations
TL;DR: Coffee drinking may be inversely associated with the development of primary BSP and this association may partly depend on the amount consumed, whereas no correlation was found with number of packs of cigarettes per day.
Abstract: Prior coffee and smoking habits were investigated in a multicentre case control study involving 166 patients presenting with primary late onset blepharospasm (BSP), 228 hospital control patients with primary hemifacial spasm and 187 population control subjects from five Italian centres. Information on age at disease onset, smoking and coffee drinking status at the reference age and average number of cups of coffee drunk/cigarettes smoked per day reached high and similar test–retest reproducibility in case and control patients. Unadjusted logistic regression analysis yielded a significant inverse association of prior coffee drinking and cigarette smoking with case status for the control groups. After adjustment for age, sex, referral centre, disease duration, years of schooling and ever coffee drinking/cigarette smoking, as appropriate, the smoking estimate lacked significance whereas the association of coffee intake and BSP did not (cases vs hospital control patients: OR 0.37 (95% CI 0.20 to 0.67); cases vs population control subjects: OR 0.44 (95% CI 0.23 to 0.85)). The strength of the inverse association between BSP and coffee intake tended to increase with the average number of cups drunk per day. There was a significant correlation between age of BSP onset and number of cups per day (adjusted regression coefficient 1.73; p = 0.001) whereas no correlation was found with number of packs of cigarettes per day. Coffee drinking may be inversely associated with the development of primary BSP and this association may partly depend on the amount consumed.
29 citations
TL;DR: In patients with upper limb dystonia there is an abnormal recovery from MEP facilitation after suprathreshold 5 Hz‐rTMS suggesting an abnormal pattern of short‐term cortical plasticity.
Abstract: Repetitive transcranial magnetic stimulation (rTMS) delivered at 5 Hz frequency and suprathreshold (RMT) intensity produces a progressive facilitation of motor-evoked potential (MEP) amplitude that outlasts the end of stimulation. This phenomenon is related to a short-term enhancement of cortical excitatory interneurones. In this study, we investigated whether 5 Hz-rTMS elicits similar MEP facilitation during stimulation and similar facilitatory after-effects in patients with upper limb dystonia and healthy subjects. Trains of 5, 10, and 20 stimuli were delivered at 120% RMT over the primary motor cortex with the subjects at rest. rTMS-trains were followed by single test stimuli delivered at various interstimulus intervals (0.5-10 s) at 120% RMT using a conditioning-test paradigm. Single conditioning stimuli were also delivered. The effects of suprathreshold 1 Hz-rTMS were also tested. The MEP amplitude during the course of the trains and of the test stimuli was measured. In control experiments, we investigated the role of the afferent inputs elicited by muscle twitches after ulnar nerve stimulation on the MEP amplitude. In patients and healthy subjects, MEP amplitude increased significantly during the course of 5 Hz-trains. In both groups the MEP facilitation outlasted the end of 5 Hz-rTMS, however the facilitatory after-effects were more pronounced and lasted longer in patients than in healthy subjects. MEP amplitudes during and after 1 Hz-rTMS remained unchanged. Ulnar nerve stimulation did not change the test MEP amplitude. We conclude that in patients with upper limb dystonia there is an abnormal recovery from MEP facilitation after suprathreshold 5 Hz-rTMS suggesting an abnormal pattern of short-term cortical plasticity.
14 citations
TL;DR: Patients with epilepsy are frequently invited to switch from branded to generic anti-epileptic drugs, and the main reason for this change in treatment is that generic drugs cost less, and this has important implications in health expenditure control.
Abstract: Patients with epilepsy are frequently invited (often by their own GP) to switch from branded to generic anti-epileptic drugs. The main reason for this change in treatment is that generic drugs cost less, and this has important implications in health expenditure control. Despite the “essential similarity” of drugs, the prescription of generic products may, however, expose patients to additional and, in some cases, unpre dictable risks (Crawford et al. 1996, Argumosa and Herranz 2005).
13 citations
TL;DR: This study tested whether prior scoliosis, which increases the risk of developing cervical dystonia, is also a predisposing factor to blepharospasm, and found that it is.
Abstract: We previously observed that diseases of the anterior ocular segment predispose to primary blepharospasm, but not to other focal dystonias. In this multicenter study, we tested whether prior scoliosis, which increases the risk of developing cervical dystonia, is also a predisposing factor to blepharospasm. The frequency of scoliosis did not differ between blepharospasm patients and controls. This finding supports the hypothesis that environmental risk factors may be specific for a single form of adult-onset dystonia.
8 citations
01 Jan 2007
TL;DR: All Online First articles must include the digital object identifier (DOIs) and date of initial establish publication priority; they are indexed by PubMed from initial publication.
Abstract: publication. Online First articles must include the digital object identifier (DOIs) and date of initial establish publication priority; they are indexed by PubMed from initial publication. Citations to may be posted when available prior to final publication). Online First articles are citable and versions accepted for publication but have not yet appeared in the paper journal (edited, typeset contains unedited articles in manuscript form that have been peer reviewed and Online First
4 citations
Journal Article•
1 citations