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Background and purpose: Comorbidity of acute ischaemic stroke with Covid-19 is a challenging condition, potentially influencing the decision of whether to administer intravenous thrombolysis (IVT). We aimed to assess the 1-month outcome in ischaemic stroke patients with Covid-19 infection who received IVT alone or before thrombectomy (bridging therapy). Methods: As a collaboration initiative promoted by the Italian Stroke Organization, all Italian stroke units (n = 190) were contacted and invited to participate in data collection on stroke patients with Covid-19 who received IVT. Results: Seventy-five invited centers agreed to participate. Thirty patients received IVT alone and 17 received bridging therapy between 21 February 2020 and 30 April 2020 in 20 centers (n = 18, Northern Italy; n = 2, Central Italy). At 1 month, 14 (30.4%) patients died and 20 (62.5%) survivors had a modified Rankin Scale (mRS) score of 3 to 5. At 24 to 36 hours, asymptomatic intracerebral hemorrhage (ICH) was reported in eight (17.4%) patients and symptomatic ICH (sICH) in two (4.3%) patients. Causes of death were severe ischaemic stroke (n = 8), a new ischaemic stroke (n = 2), acute respiratory failure (n = 1), acute renal failure (n = 1), acute myocardial infarction (n = 1), and endocarditis (n = 1). In survivors with a 1-month mRS score of 3 to 5, baseline glucose level was higher, whereas endovascular procedure time in cases of bridging therapy was longer. Baseline National Institutes of Health Stroke Scale glucose and creatinine levels were higher in patients who died. Conclusions: Intravenous thrombolysis for patients with stroke and Covid-19 was not a rare event in the most affected areas by pandemic, and rates of 1-month unfavorable outcomes were high compared to previous data from the pre–Covid-19 literature. However, risk of sICH was not increased.

BACKGROUND AND PURPOSE: Published reports on the association between amyotrophic lateral sclerosis (ALS) and trauma are controversial suggesting the need for a new case-control study done in a large population. METHODS: A case-control study was undertaken in Italy to assess this association. Cases were patients with newly diagnosed ALS from four population-based registries. For each case, two hospital controls were selected, matched for age, sex, and province of residence, one with a neurological (non-degenerative) disease and one with a non-neurological disease (other than orthopedic or surgical). Traumatic events (defined as accidental events causing injuries requiring medical care) were recorded with details on type, site, timing, severity, and complications. The risks were assessed as odds ratios (ORs) with 95% confidence intervals (CI), crude and adjusted for age, sex, education, interviewee (patient or surrogate), physical activity, smoking, alcohol, and coffee. RESULTS: The study population comprised 377 patients in each of the three groups. One or more traumatic events were reported by 225 cases (59.7%), 191 neurological controls (50.7%), and 179 non-neurological controls (47.5%) (P < 0.01) (OR 1.63; 95% CI 1.25-2.14) (P < 0.01). The ORs were 3.07 (95% CI 1.86-5.05) for patients reporting 3+ traumatic events and 2.44 (95% CI 1.36-4.40) for severe traumatic events. The ORs remained significant when the analysis was limited to events occurred 5+ and 10+ years before ALS onset, to incident ALS, and direct informant. CONCLUSION: Antecedent trauma, repeated trauma, and severe trauma may be risk factors for ALS.

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. We analysed the ARSA gene in eight unrelated Italian families with different clinical variants of MLD and identified three novel mutations: two Ser406Gly, (Glu329Ter) associated with late infantile MLD and one (Leu52Pro) with juvenile MLD. Only one family carried a pseudodeficiency allele (Asn350Ser). The IVS2+1G>A mutation occurred in four families. We also identified three polymorphisms, all in heterozygosis: Thr391Ser was present in five families, Trp193Cys in four families, and Ala210Ala in one family. We could identify 100% of the alleles causing MLD in the families, involving 12 different mutations, resulting in improved prognosis and genetic counselling., Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

Hereditary spastic paraparesis (HSP) includes a heterogeneous group of neurodegenerative diseases characterised by progressive spasticity and hyper-reflexia of the lower limbs. Autosomal dominant HSP type 4 is the most common clinical form, accounting for about 40-50% of autosomal dominant HSP families. This form is due to mutation of the gene encoding spastin (SPG4), an ATP-ase associated with a variety of cellular function (AAA). Here we describe a novel missense mutation (1297T>C; 391L>P) in exon 8 of SPG4 gene, identified in 2 members (mother and son) of an Italian family with autosomal dominant HSP, clinically pure in the mother and complicated in the son. The mutation lies in a highly conserved AAA box domain between amino acids 342 and 599 in spastin sequence. In both patients, this novel mutation was associated with the absence of relatively common clinical characteristics, such as vibratory sensory deficit and loss of sphincter control, and partial temporal epilepsy, particularly in the son, with infantile onset, secondarily generalised and moderately severe neuropsychiatric symptoms., Case Reports, Journal Article, info:eu-repo/semantics/published

Hereditary spastic paraparesis (HSP) includes a heterogeneous group of neurodegenerative diseases characterised by progressive spasticity and hyper-reflexia of the lower limbs. Autosomal dominant HSP type 4 is the most common clinical form, accounting for about 40-50% of autosomal dominant HSP families. This form is due to mutation of the gene encoding spastin (SPG4), an ATP-ase associated with a variety of cellular function (AAA). Here we describe a novel missense mutation (1297T>C; 391L>P) in exon 8 of SPG4 gene, identified in 2 members (mother and son) of an Italian family with autosomal dominant HSP, clinically pure in the mother and complicated in the son. The mutation lies in a highly conserved AAA box domain between amino acids 342 and 599 in spastin sequence. In both patients, this novel mutation was associated with the absence of relatively common clinical characteristics, such as vibratory sensory deficit and loss of sphincter control, and partial temporal epilepsy, particularly in the son, with infantile onset, secondarily generalised and moderately severe neuropsychiatric symptoms., Case Reports, Journal Article, info:eu-repo/semantics/published

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. We analysed the ARSA gene in eight unrelated Italian families with different clinical variants of MLD and identified three novel mutations: two Ser406Gly, (Glu329Ter) associated with late infantile MLD and one (Leu52Pro) with juvenile MLD. Only one family carried a pseudodeficiency allele (Asn350Ser). The IVS2+1G>A mutation occurred in four families. We also identified three polymorphisms, all in heterozygosis: Thr391Ser was present in five families, Trp193Cys in four families, and Ala210Ala in one family. We could identify 100% of the alleles causing MLD in the families, involving 12 different mutations, resulting in improved prognosis and genetic counselling., Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published