1,721,773 research outputs found
Le basi genetiche della Sclerosi Laterale Amiotrofica: un “puzzle” ancora tutto da completare
No full textEncefalomiopatie mitocondriali. Simposi in Medicina Clinica. Rivista Medica degli Ospedali di Milano IRCCS Ospedale Maggiore di Milano, Niguarda Cà Granda, San Carlo Borromeo e di Sesto S. Giovanni. The role of Molecular genetics in neurological diagnosis. Masson 89, (2): 177-186, 1995
No full textLe basi genetiche della Sclerosi Laterale Amiotrofica: un “puzzle” ancora tutto da completare
No full textGenetics and neurobiology of frontotemporal lobar degeneration
No full textFrontotemporal dementia (FTD) is characterised by brain intracellular deposition of abnormally phosphorylated tau protein, considered responsible for neuronal death. Several familial cases with different mutations in the tau encoding gene (MAPT), located on chromosome 17, have been described. Besides, in a Danish family, the genetic defect has been associated to chromosome 3. Although many FTD families exhibit known mutations, in some cases none of them occur. Recent findings demonstrate an increased intrathecal production of both pro- and anti-inflammatory cytokines in sporadic FTD patients. Besides, increased cerebrospinal fluid monocyte chemotactic protein-1 and interleukin-8 levels have been observed in FTD, whereas interferon-gamma-inducible protein-10 levels were similar to controls
Efficacy and tolerability of eperisone in patients with spastic palsy : a cross-over, placebo-controlled dose-ranging trial
No full textBackground and Objectives: Central muscle relaxants are a clinical option in patients with spastic palsy. Eperisone is a central muscle relaxant used in several conditions, but its therapeutic potential in spastic palsy needs to be verified. This dose-ranging trial compares two doses of eperisone in patients with spastic palsy associated to cerebral or spinal diseases. Patients and Methods: In this randomized, placebo-controlled, double-blind, three-way cross-over study, patients (18-75 years) with spastic palsy received eperisone 150 mg/day, eperisone 300 mg/day, or placebo for 8 weeks. Treatment periods lasted for 14 days. Objective clinical parameters (intensity of spasticity and physiological reflexes) and functional parameters (walking capability, capability to climb stairs, rigidity) were measured. Tolerability was also evaluated. Results: Eighteen patients were enrolled. The reduction in the intensity of spasticity versus the beginning of each treatment cycle was significant with eperisone 300 mg/day (p =0.004). Similar findings were observed in the evaluation of patellar reflex (p =0.01), while the other reflexes were not significantly different. Walking capability was significantly improved with eperisone 300 mg/day (p <0.05). No significant differences were observed in the capability to climb stairs and in rigidity. A trend towards a reduction in pain was noted with eperisone 300 mg/day versus placebo. The incidence of adverse events was similar in all groups. Discussion: Eperisone 300 mg/day might be an effective and well-tolerated treatment for spastic palsy. Larger studies are required to further characterize the efficacy of eperisone in this therapeutic area
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