Gian Carlo Muscas

Azienda Ospedaliero Universitaria Careggi, Firenzuola, Tuscany, Italy

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Publications (3)7.94 Total impact

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    ABSTRACT: We investigated the prevalence and the clinical association of high titer of antibodies against glutamic acid decarboxylase (hGADAb) among unselected patients with inflammatory/autoimmune disorders of the nervous system. By indirect immunofluorescence examination of samples from 1435 patients, we identified 7 cases (0.48%) with hGADAb. Although stiff-person plus syndrome was the commonest clinical accompaniment, most of the patients presented with a combination of different symptoms, including psychiatric disturbances and intestinal motility disorders. Diagnosis delay and chronic evolution were common findings. In two cases persistently high values of hGADAb over the years were observed. The rarity and the phenotype heterogeneity of hGADAb clinical association should not discourage clinicians from antibody screening, at least in selected cases, as an early immunotherapy can change the otherwise chronic progression of this complex disorder spectrum.
    Journal of neuroimmunology 10/2010; 227(1-2):175-7. · 2.84 Impact Factor
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    ABSTRACT: The clinical and EEG data of a 49-year-old man with myoclonic and generalized tonic-clonic seizures resulting from early childhood encephalitis are described. He experienced no tonic-clonic seizure for 10 years before brief exposure first to 60 mg/day duloxetine and then to 20mg/day paroxetine for depressive symptoms. These drugs were separately prescribed at a 9-month interval, and after beginning each drug, the patient experienced tonic-clonic seizures of worsening intensity and myoclonus of increasing frequency. Clinical features correlated with subcontinuous, generalized spike-wave discharges on the EEG. Discontinuation of antidepressant treatment resulted in rapid disappearance of clinical and electrophysiological manifestations of myoclonic status. We suggest care must be taken when using serotonin-noradrenaline reuptake inhibitors (SNRIs) or selective serotonin reuptake inhibitors (SSRIs), as these drugs pose the risk of complications in the specific population of people with myoclonic seizures.
    Epilepsy & Behavior 05/2009; 14(4):681-3. · 2.06 Impact Factor
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    ABSTRACT: Limbic encephalitis (LE) is a neurological syndrome that may present in association with cancer, infection, or as an isolate clinical condition often accompanying autoimmune disorders. Here we have characterized the clinical and laboratory features of two patients presenting with subacute onset, and chronic evolution, of anterograde amnesia and drug-resistant epilepsy associated with thyroid autoimmunity and in absence of tumoral pathology despite long follow-up. Antibodies against onconeural antigens, voltage gated potassium channel and glutamate receptors, which may accompany paraneoplastic as well as non-paraneoplastic LE, were negative. However, biochemical studies showed high titers, and sustained intrathecal synthesis, of antibodies directed against neuronal glutamic acid decarboxylase (GAD). In one patient, plasma exchange determined a dramatic improvement of the neurological deficits along with the decrease of autoantibodies.
    Journal of Neuroimmunology 07/2008; 199(1-2):155-9. · 3.03 Impact Factor