Manuela Gioulis

Gaucher’s disease with Parkinson’s disease Clinical and pathological aspects

The association between type 1 Gaucher disease and PD has been reported in the literature. The clinical picture is characterized by the predominance of bilateral akinetic-rigid signs and poor response to levodopa therapy. The authors describe four patients (two siblings) with type 1 Gaucher disease presenting with the following signs of typical PD: asymmetric onset of rigidity, resting tremor, bradykinesia, and a favorable response to Parkinson therapies.

A systematic review of catechol-o-methyltransferase inhibitors: Efficacy and safety in clinical practice

&NA;Catechol-O-methyltransferase (COMT) inhibitors are drugs commonly used in the management of patients with Parkinson disease complicated by motor fluctuations. Among them, entacapone is the most commonly used. Tolcapone has been reintroduced in patients where entacapone has proved to be ineffective after being withdrawn from the market because of sporadic cases of hepatotoxicity. The last COMT inhibitor is nebicapone, which use in clinical practice is still under study. ObjectivesThe objectives of this study were to analyze the clinical efficacy in reducing motor complications and to evaluate their use in clinical practice and the adverse events reported in the literature. MethodsScientific articles of the main previously mentioned drugs have been reviewed. ResultsAll these 3 drugs have proved to be effective in improving wearing-off and significantly reduce the daily dose of levodopa at the number of daily intakes. Tolcapone is undoubtedly the most effective drug, although in clinical practice sporadic cases of hepatotoxicity have limited its use in patients unresponsive to entacapone. Nebicapone is effective, and its safety is still under evaluation. Entacapone is generally well tolerated, and no significant adverse events are reported. ConclusionsTo manage motor fluctuations, the use of COMT inhibitors is now consolidated in the common clinical practice. Tolcapone is used as a second choice in patients with severe motor fluctuations not responsive to entacapone.

Chronic bilateral electrical stimulation of the subthalamic nucleus for the treatment of advanced Parkinson's disease.

Abstract Preliminary reports in patients with Parkinsons disease (PD) showed that subthalamic nucleus (STN) stimulation was able to reverse parkinsoniam state. Since 1998 we evaluated the safety and the efficacy of STN stimulation in 7 patients affected by advanced PD. All patients were included using CAPIT protocol. Motor functions and quality of life were evaluated, before and after surgery, with UPDRS and PDQ38, respectively. At the 6-month follow-up, the off medication/on stimulation UPDRS motor score improved by 50.6% and the on medication/on stimulation by 20.3%. Motor fluctuations were reduced by 57.2% and dyskinesias by 73.5%. The total D-dopa equivalent daily dose was reduced by 40.7%. PDQ38 ameliorated by 49.9%. We did not observe any perioperatory complication and only mild and tolerable side effects after stimulation.

‘Speech Initiation Hesitation’ following Subthalamic Nucleus Stimulation in a Patient with Parkinson’s Disease

‘Speech Initiation Hesitation’ following Subthalamic Nucleus Stimulation in a Patient with Parkinson’s Disease R. Moretti a–c, P. Torre b, c, R.M. Antonellob, c, L. Capusb, M. Gioulisb, S. Zambito Marsalab, G. Cazzatob, A. Bava a aDipartimento di Fisiologia e Patologia, bDipartimento di Medicina Clinica e Neurologia, UCO di Clinica Neurologica, and cDipartimento di Medicina Clinica e Neurologia, UCO di Clinica Neurologica, Sezione Disturbi Cognitivi, Università degli Studi di Trieste, Trieste, Italy

Cognitive changes following subthalamic nucleus stimulation in two patients with Parkinson disease

The limits of a drug therapy in severe forms of Parkinson disease have led to refining neurosurgery on the basal ganglia. Deep brain stimulation of the subthalamic nucleus has been recognized as one of the most promising techniques to decrease “off” motor symptoms and motor fluctuations, allowing a reduction of drug therapy and limiting side effects of the drugs. There is still open debate on the possible consequences of chronic subthalamic stimulation in other ways, apart from motor symptoms, of general cognitive performance. We examined and followed two patients with Parkinson disease for 9 mo. after surgery for deep stimulation, studying their cognitive performances. There is a general amelioration of cognitive performances, in particular as far as linguistic capabilities is concerned. We discuss the possible significance of these results, reminding strenuously that only two patients were involved, so the potential for generalization is seriously limited.

Peculiar aspects of reading and writing performances in patients with olivopontocerebellar atrophy.

Olivopontocerebellar atrophy (OPCA) is a still debated condition, of which motor disruption is the most common feature. A high incidence of associated mood disorders may exist, but there are few studies on concomitant cognitive impairment. Our aim was to assess whether there is reading and writing disruption in olivopontocerebellar atrophy (OPCA). 6 patients were administered different reading and writing tasks. Scores were then compared to those obtained by healthy volunteers. There was an evident impairment in reading and writing execution in out patients compared to those of the control group. On the contrary, no difference could be found in abstraction, problem-solving, and memory tasks. We discuss the results, debating the role of the cerebellum in the conscious process of cognition or in ocular movement control (necessary for reading and writing fluidity and effective execution) and in the dynamic activation of all the cerebral cortex mediated by the diffuse projection to the reticular system.

Neurological complications of tick borne encephalitis: the experience of 89 patients studied and literature review.

Abstract Tick borne encephalitis (TBE) is an acute febrile syndrome that can be complicated with neurological symptoms ranging from mild meningitis to severe encephalomyelitis. The causative agent is a virus belonging to the family of flaviviruses. We have collected a series of 89 patients and compared the clinical course with the main data of the literature of TBE. This review in addition describes the clinical manifestations associated with TBE infections, the main molecular-biological properties of these viruses, and the different factors that define the incidence and severity of disease who are frequently situated in the age group young/adult with a social harm and functional non-negligible. This review also contains diagnostic elements and neuropathological features typical of this infection and a brief summary of vaccination against TBE.

Isolated polio-like syndrome after tick-borne encephalitis presenting with acute hyperckemia

Tick borne encephalitis virus infection usually shows a biphasic course. In the first stage of illness symptoms are similar to a flu-like syndrome, then after a defervescence period, fever may represent with neurological manifestations ranging from mild meningitis to severe encephalomyelitis. We report the clinical case of an adult man presented with an acute proximal hyposthenia, severe hyperckemia, clinical and laboratoristic evidence of acute tick borne virus infection. This virus has a favourite tropism for the anterior horn cells of the cervical spine segment. Polio-like syndrome, usually affecting the upper limbs, is the clinical phenotype of an infection of the cervical motoneurons. Usually myelitis is associated to severe encephalitis and a complete diagnosis may be difficult in comatose patients. Rarely, an isolated polio-like syndrome may be the sole neurological complication of tick-borne encephalitis.

Rasagiline and Rapid Symptomatic Motor Effect in Parkinson’s Disease: Review of Literature

Rasagiline is a monoamine oxidase type-B inhibitor used as monotherapy or in addition to levodopa in the treatment of Parkinson’s disease. Once daily administration of rasagiline makes it easy to use, and allows good compliance by patients and adherence to therapy. Several multicenter studies have noted the effectiveness of rasagiline on both motor and non-motor symptoms, which require a complex pharmacologic approach, such as cognitive disorders. A recent study also reported a rapid action of rasagiline on motor symptoms. Positive findings have been highlighted by an economic model study. This review analyzes the main studies of rasagiline, with particular attention to the effectiveness of the drug on motor symptoms.

Cerebrospinal fluid and lumbar puncture: the story of a necessary procedure in the history of medicine.

The aim of our work was to investigate the different historical stages that led gradually to the discovery of the anatomical structures that form and contain cerebrospinal fluid (CSF), until the Quincke idea, to collect the liquid directly at the lumbar level delivering to humanity a diagnostic tool present and absolutely irreplaceable in everyday clinical practice. This is done through consultation of all the historical medical literature, together with the critical examination of the original articles when available in the most rigorous chronological and speculative order, which enabled knowledge advancement.