ObjectiveTo retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA).MethodsInclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at baseline (T0-beginning of treatment) and 6 months (T6).ResultsWe included 116 patients (13 SMA2 and 103 SMA3) with median age at first administration of 34 years (range 18–72). The Hammersmith Functional Rating Scale Expanded (HFMSE) in patients with SMA3 increased significantly from baseline to T6 (median change +1 point, p<0.0001), T10 (+2, p<0.0001) and T14 (+3, p<0.0001). HFMSE changes were independently significant in SMA3 sitter and walker subgroups. The Revised Upper Limb Module (RULM) in SMA3 significantly improved between T0 and T14 (median +0.5, p=0.012), with most of the benefit observed in sitters (+2, p=0.018). Conversely, patients with SMA2 had no significant changes of median HFMSE and RULM between T0 and the following time points, although a trend for improvement of RULM was observed in those with some residual baseline function. The rate of patients showing clinically meaningful improvements (as defined during clinical trials) increased from 53% to 69% from T6 to T14.ConclusionsOur data provide further evidence of nusinersen safety and efficacy in adult SMA2 and SMA3, with the latter appearing to be cumulative over time. In patients with extremely advanced disease, effects on residual motor function are less clear.

The transient pregnancy restless legs syndrome form is a significant risk factor for the development of a future chronic idiopathic restless legs syndrome form, and for a new transient symptomatology in a future pregnancy.

Purpose: Post-polio syndrome develops about 20-40 years after acute paralytic poliomyelitis, and manifests with progressively deteriorating muscle strength and endurance. Here, we assessed whether transcranial direct current stimulation (tDCS) improves sleep and fatigue symptoms in patients with post-polio syndrome. Methods: We enrolled 32 patients with a diagnosis of post-polio syndrome. tDCS (1.5 mA, 15 min) was delivered by a direct current stimulator connected to three electrodes: two anodal electrodes on the scalp over the right and left pre-motor cortex and the other above the left shoulder (cathode). 16 patients received anodal tDCS and the remainder sham tDCS. We evaluated changes induced by tDCS (daily for five days a week, for three weeks) on clinical scales (Short Form Health Survey [SF-36], Piper Fatigue Scale [PFS], Fatigue Severity Scale [FSS], 101-Point Numerical Rating [PNR-101], Hamilton Rating Scale for Depression [HRSD], Pittsburgh Sleep Quality Index [PSQI]) at baseline (T 0 ) and three weeks later (T 1 ). Results: At T 1 SF-36 sub-items physical functioning, role physical, vitality, social functioning and role emotional improved significantly more in patients who received tDCS (p < 0.01) than in sham-treated patients. Also, PSQI scores improved more in treated patients (p < 0.05, two-way ANOVA with "stimulation" and "time" as factors: p < 0.01). tDCS-induced benefits were more pronounced in patients who were younger at primary infection (p < 0.05). Conclusion: Anodal tDCS over the pre-motor areas for fifteen days improved sleep and fatigue symptoms in patients with post-polio syndrome. tDCS could be a non-invasive and valuable new tool for managing post-polio patients.

Background and Purpose— As a reliable scoring system to detect the risk of symptomatic intracerebral hemorrhage after thrombectomy for ischemic stroke is not yet available, we developed a nomogram for predicting symptomatic intracerebral hemorrhage in patients with large vessel occlusion in the anterior circulation who received bridging of thrombectomy with intravenous thrombolysis (training set), and to validate the model by using a cohort of patients treated with direct thrombectomy (test set). Methods— We conducted a cohort study on prospectively collected data from 3714 patients enrolled in the IER (Italian Registry of Endovascular Stroke Treatment in Acute Stroke). Symptomatic intracerebral hemorrhage was defined as any type of intracerebral hemorrhage with increase of ≥4 National Institutes of Health Stroke Scale score points from baseline ≤24 hours or death. Based on multivariate logistic models, the nomogram was generated. We assessed the discriminative performance by using the area under the receiver operating characteristic curve. Results— National Institutes of Health Stroke Scale score, onset-to-end procedure time, age, unsuccessful recanalization, and Careggi collateral score composed the IER-SICH nomogram. After removing Careggi collateral score from the first model, a second model including Alberta Stroke Program Early CT Score was developed. The area under the receiver operating characteristic curve of the IER-SICH nomogram was 0.778 in the training set (n=492) and 0.709 in the test set (n=399). The area under the receiver operating characteristic curve of the second model was 0.733 in the training set (n=988) and 0.685 in the test set (n=779). Conclusions— The IER-SICH nomogram is the first model developed and validated for predicting symptomatic intracerebral hemorrhage after thrombectomy. It may provide indications on early identification of patients for more or less postprocedural intensive management.

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