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Albanese A.,University of Milan | Albanese A.,Carlo Besta National Neurological Institute | Bhatia K.,University College London | Bressman S.B.,Yeshiva University | And 10 more authors.
Movement Disorders | Year: 2013

This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during 3 in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along 2 axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features); and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. © 2013 Movement Disorder Society.

Goljar N.,University of Ljubljana | Burger H.,University of Ljubljana | Vidmar G.,University of Ljubljana | Leonardi M.,Carlo Besta National Neurological Institute | And 2 more authors.
Journal of Rehabilitation Medicine | Year: 2011

To determine whether the International Classification of Functioning, Disability and Health (ICF) model is adequate for assessing disability patterns in stroke survivors in the sub-acute rehabilitation setting in terms of potential changes in functional profiles over time. Methods: Functional profiles of 197 stroke patients were assessed using the ICF Checklist and the Functional Independence Measure (FIMTM) at admission and discharge from rehabilitation hospital. The ICF Checklist was applied based on medical documentation and rehabilitation team meetings. Descriptive analyses were performed to identify changes in ICF categories and qualifiers from admission to discharge, and correlations between different improvement measures were calculated. Results: Mean rehabilitation duration was 60 days; patientsapos mean age was 60 years, with mean FIM-score 75 at admission. Mean FIM-score improvement at discharge was 12.5. Within Body Functions, changes in at least 10% of patients were found regarding 13 categories; no categories within Body Structures, 24 within Activities and Participation, and 2 within Environmental Factors. Changes were mostly due to improvement in qualifiers, except for within Environmental Factors, where they were due to use of additional categories. Correlations between improvements in Body Functions and Activities and Participation (regarding capacity and performance), as well as between capacity and performance within Activities and Participation, were approximately 0.4. Conclusion: Rating ICF categories with qualifiers enables the detection of changes in functional profiles of stroke patients who underwent an inpatient rehabilitation programme. © 2011 Foundation of Rehabilitation Information.

Airoldi C.,University of Milan Bicocca | Colombo L.,Mario Negri Institute for Pharmacological Research | Manzoni C.,Mario Negri Institute for Pharmacological Research | Sironi E.,University of Milan Bicocca | And 8 more authors.
Organic and Biomolecular Chemistry | Year: 2011

The antibiotic tetracycline was reported to possess an anti-amyloidogenic activity on a variety of amyloidogenic proteins both in in vitro and in vivo models. To unveil the mechanism of action of tetracycline on Aβ1-40 and Aβ1-42 at both molecular and supramolecular levels, we carried out a series of experiments using NMR spectroscopy, FTIR spectroscopy, dynamic laser light-scattering (DLS) and atomic force microscopy (AFM). Firstly we showed that the co-incubation of Aβ1-42 oligomers with tetracycline hinders the toxicity towards N2a cell lines in a dose-dependent manner. Therefore, the nature of the interaction between the drug and Aβ oligomers was investigated. To carry out NMR and FTIR studies we have prepared Aβ peptide solutions containing assemblies ranging from monomers to large oligomers. Saturation transfer difference (STD) NMR experiments have shown that tetracycline did not interact with monomers at variance with oligomers. Noteworthy, in this latter case we observed that this interaction was very peculiar since the transfer of magnetization from Aβ oligomers to tetracycline involved all drug protons. In addition, intermolecular cross-peaks between tetracycline and Aβ were not observed in NOESY spectra, indicating the absence of a specific binding site and suggesting the occurrence of a supramolecular interaction. DLS and AFM studies supported this hypothesis since the co-dissolution of Aβ peptides and tetracycline triggered the immediate formation of new aggregates that improved the solubility of Aβ peptides, preventing in this way the progression of the amyloid cascade. Moreover, competitive NMR binding experiments showed for the first time that tetracycline competes with thioflavin T (ThT) in the binding to Aβ peptides. Our data shed light on a novel mechanism of anti-amyloidogenic activity displayed by tetracycline, governed by hydrophobic and charge multiparticle interactions. © 2011 The Royal Society of Chemistry.

Alfieri P.,Child Neuropsychiatry Unit | Cesarini L.,Catholic University | De Rose P.,Child Neuropsychiatry Unit | Ricci D.,Catholic University | And 11 more authors.
American Journal of Medical Genetics, Part A | Year: 2011

Global spatial and motion processing abilities were assessed in 18 patients with Noonan syndrome (NS) and in 43 matched controls using form and motion coherence testing, respectively. We observed a discrepancy between the two groups since the study group had significantly lower performances than the control group for form coherence while there was no impairment on motion coherence. All the patients were also assessed on the Movement Assessment Battery for Children (M-ABC) to evaluate visuomotor skills. Thirteen of the 18 (72%) also had global poor performances on the M-ABC. The results show that children with NS have a specific impairment in the global processing of visuospatial information and are likely to have a specific ventral stream deficit as also suggested by the frequent visuomotor perceptual difficulties. Testing form and motion coherence thresholds may be a useful diagnostic tool for this group of patients, despite their normal cognitive abilities, since aspects of global form processing and visuomotor perceptual difficulties can be identified and potentially targeted for a specific rehabilitation program. © 2011 Wiley-Liss, Inc.

Allais G.,University of Turin | Tullo V.,Carlo Besta National Neurological Institute | Omboni S.,Italian Institute of Telemedicine | Benedetto C.,University of Turin | And 4 more authors.
Neurological Sciences | Year: 2012

The objective of this study was to review the efficacy and safety of frovatriptan (F) versus rizatriptan (R), zolmitriptan (Z) and almotriptan (A), in women with menstrually related migraine (IHS criteria) through a pooled analysis of three individual studies. Subjects with a history of migraine with or without aura were randomized to F 2.5 mg or R 10 mg (study 1), F or Z 2.5 mg (study 2), and F or A 12.5 mg (study 3). The studies had an identical multicenter, randomized, double-blind, crossover design. After treating three episodes of migraine in no more than 3 months with the first treatment, patients had to switch to the next treatment for other 3 months. 346 subjects formed intention-to-treat population of the main study; 280 of them were of a female gender, 256 had regular menses and 187 were included in the menstrual migraine subgroup analysis. Rate of pain free at 2, 4 and 24 h was 23, 52 and 67 % with F and 30, 61 and 66 % with comparators (P = NS). Pain relief episodes at 2, 4 and 24 h were 37, 60 and 66 % for F and 43, 55 and 61 % for comparators (P = NS). Rate of recurrence was significantly (P<0.05) lower under F either at 24 h (11 vs. 24 % comparators) or at 48 h (15 vs. 26 % comparators). Number of menstrual migraine attacks associated with drug-related adverse events was equally low (P = NS) between F (5 %) and comparators (4 %). © The Author(s) 2012.

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