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Background: Detailed information about the epidemiological and phenomenological differences among the aetiological subtypes of oromandibular dystonia (OMD) is lacking. Moreover, the OMD tendency to spread to other body sites has never been investigated. Aim: To compare the main demographic and clinical features of OMD in different aetiological groups and assess the risk of spread. Materials and methods: We retrospectively analysed data from patients contained in the Italian Dystonia Registry. The risk of spread was assessed by Kaplan Meyer curves and Cox regression analysis. Results: The study included 273 patients (175 women) aged 55.7 years (SD 12.7) at OMD onset. Female predominance was observed. Idiopathic dystonia was diagnosed in 241 patients, acquired dystonia in 22. In 50/273 patients, dystonia started in the oromandibular region (focal OMD onset); in 96/273 patients the onset involved the oromandibular region and a neighbouring body site (segmental/multifocal OMD onset); and in 127/273 patients OMD was a site of spread from another body region. Sensory trick (ST) and positive family history predominated in the idiopathic group. No dystonia spread was detected in the acquired group, whereas spread mostly occurred within the first five years of history in 34% of the focal OMD onset idiopathic patients. Cox regression analysis revealed ST as a significant predictor of spread (HR, 12.1; 95% CI, 2.5 – 18.8; P = 0.002). Conclusion: This large study provides novel information about the clinical phenomenology of idiopathic and acquired OMD. We pointed out a possible role of oestrogens in favouring dystonia development. Moreover, we described for the first time the association between ST and dystonia spread, revealing possible common pathophysiological mechanisms. Our findings may be suggested as a referral point for future pathophysiological and therapeutic studies on OMD. [ABSTRACT FROM AUTHOR]

Background: SPG18 is caused by mutations in the endoplasmic reticulum lipid raft associated 2 (ERLIN2) gene. Autosomal recessive (AR) mutations are usually associated with complicated hereditary spastic paraplegia (HSP), while autosomal dominant (AD) mutations use to cause pure SPG18. Aim: To define the variegate clinical spectrum of the SPG18 and to evaluate a dominant negative effect of erlin2 (encoded by ERLIN2) on oligomerization as causing differences between AR and AD phenotypes. Methods: In a four-generation pedigree with an AD pattern, a spastic paraplegia multigene panel test was performed. Oligomerization of erlin2 was analyzed with velocity gradient assay in fibroblasts of the proband and healthy subjects. Results: Despite the common p.V168M mutation identified in ERLIN2, a phenoconversion to amyotrophic lateral sclerosis (ALS) was observed in the second generation, pure HSP in the third generation, and a complicated form with psychomotor delay and epilepsy in the fourth generation. Erlin2 oligomerization was found to be normal. Discussion: We report the first AD SPG18 family with a complicated phenotype, and we ruled out a dominant negative effect of V168M on erlin2 oligomerization. Therefore, our data do not support the hypothesis of a relationship between the mode of inheritance and the phenotype, but confirm the multifaceted nature of SPG18 on both genetic and clinical point of view. Clinicians should be aware of the importance of conducting an in-depth clinical evaluation to unmask all the possible manifestations associated to an only apparently pure SPG18 phenotype. We confirm the genotype–phenotype correlation between V168M and ALS emphasizing the value of close follow-up. [ABSTRACT FROM AUTHOR]

Waste deriving from quarrying operations of natural stone material retains almost all the mineralogical and compositional characteristics of the original material, for such reason this research aimed to test prototypes cementitious tile adhesives made up recycling the Alwar Quartzite waste, used as fine and ultra-fine aggregate. Particle size distribution analysis, along with X-ray diffractometry, X-ray fluorescence and Scanning Electron Microscopy were carried out to characterize the waste. Experimental research involved the mix-designing of three dough formulations (a regular one [N], a latex added [L] and a fast-setting [R]) tested by using different types of tiles: (i) polished metal plates, (ii) ceramic tiles and (iii) rough natural stone slabs. Fresh prepared doughs were firstly tested for thixotropy achieving high values (ranging 82–93%) and cured for normative requested time after being stuck on a concrete support as reported in European UNI standard regulations. After respective curing time, adhesives technical performances were evaluated by the Pull-Off test obtaining results for Class 1 (N and R) and Class 2 (L) adhesives with high initial tensile adhesive strength. Experimental results carried out in this research proved the possibility to use huge amounts of waste coming from Indian stone industry in cementitious tile adhesives sector without compromising technical performances, proposing itself as an alternative method to landfill disposal for this waste. [ABSTRACT FROM AUTHOR]

A few earlier observations and recent controlled studies pointed to the possible contribution of thyroid diseases in idiopathic adult-onset dystonia (IAOD). The aim of this study was to investigate the association between thyroid status and clinical characteristics of IAOD, focusing on dystonia localization, spread, and associated features such as tremors and sensory tricks. Patients were identified from those included in the Italian Dystonia Registry, a multicentre dataset of patients with adult-onset dystonia. The study population included 1518 IAOD patients. Patients with hypothyroidism and hyperthyroidism were compared with those without any thyroid disease. In the 1518 IAOD patients, 167 patients (11%; 95% CI 9.5–12.6%) were diagnosed with hypothyroidism and 42 (2.8%; 95% CI 1.99–3.74) with hyperthyroidism. The three groups were comparable in age at dystonia onset, but there were more women than men in the groups with thyroid disease. Analysing the anatomical distribution of dystonia, more patients with blepharospasm were present in the hyperthyroidism group, but the difference did not reach statistical significance after the Bonferroni correction. The remaining dystonia-affected body sites were similarly distributed in the three groups, as did dystonia-associated features and spread. Our findings provided novel information indicating that the high rate of thyroid diseases is not specific for any specific dystonia subpopulation and does not appear to influence the natural history of the disease. [ABSTRACT FROM AUTHOR]

This study aimed at assessing the clinimetrics of the Montreal Cognitive Assessment (MoCA) in an Italian cohort of patients with adult-onset idiopathic focal dystonia (AOIFD). N = 86 AOIFD patients and N = 92 healthy controls (HCs) were administered the MoCA. Patients further underwent the Trail-Making Test (TMT) and Babcock Memory Test (BMT), being also screened via the Beck Depression Inventory-II (BDI-II) and the Dimensional Apathy Scale (DAS). Factorial structure and internal consistency were assessed. Construct validity was tested against TMT, BMT, BDI-II and DAS scores, whilst diagnostics against the co-occurrence of a defective performance on at least one TMT measure and on the BMT. Case–control discrimination was examined. The association between MoCA scores and motor-functional measures was explored. The MoCA was underpinned by a mono-component structure and acceptably reliable at an internal level. It converged towards TMT and BMT scores, as well as with the DAS, whilst diverging from the BDI-II. Its adjusted scores accurately detected cognitive impairment (AUC =.86) at a cut-off of < 17.212. The MoCA discriminated patients from HCs (p <.001). Finally, it was unrelated to disease duration and severity, as well as to motor phenotypes. The Italian MoCA is a valid, diagnostically sound and feasible cognitive screener in AOIFD patients. [ABSTRACT FROM AUTHOR]

Friedreich's ataxia (FRDA) is the most common inherited recessive ataxia. Cardiomyopathy (CM) with myocardial hypertrophy is the predominant cause of death. The presence of CM is variable and the risk factors for cardiac involvement are not entirely clear. Markers of collagen degradation, such as C-terminal cross-linked telopeptide of type I collagen (CTX-I), seem to be associated with unfavorable cardiovascular outcomes. The aim of our study was to measure serum CTX-I as a marker of cardiac fibrosis in FRDA patients. We measured serum CTX value in twenty-five FRDA patients (mean age, 31.3 ± 14.7 years) and nineteen healthy controls (mean age, 34.0 ± 13.5 years). Patients underwent echocardiography and SARA scale evaluation. CTX values were significantly higher in the patients than in the control group (31.82 ± 2.27 vs 16.44 ± 1.6 μg/L; p = 0.006). CTX-I was inversely correlated with age (R = − 0,535; n = 44; p < 0.001). The regression model identified disease duration and TT3 levels to be independent predictors of CTX-I (model R2 = 0.938; intercept − 64.0, p = 0.071; disease duration coefficient = − 2.34, p = 0.005; TT3 coefficient = 127.17, p = 0.011). CTX-I, a biomarkers of collagen turnover, is elevated in FRDA and should provide complementary information to identify patients with high cardiological risk even if longitudinal studies are needed to define the role of this serologic marker of collagen metabolism in the natural history of cardiomyopathy in FRDA patients. [ABSTRACT FROM AUTHOR]

Background: To date, few cases of multiple sclerosis (MS) patients with concomitant Human Immunodeficiency Virus (HIV) infection have been described. However, none of the previously described cases has been treated with Natalizumab, probably due to the increasing risk of progressive multifocal leukoencephalopathy (PML). Case: We report the case of a patient concomitantly diagnosed for HIV infection and MS treated with combined antiretroviral therapy (cART) and Natalizumab for 19 months, without clinical or radiological MS activity. Conclusions: Our case might suggest considering Natalizumab in patients with concomitant HIV infection, especially for those with significant disease activity requiring a high efficacy disease modifying treatment. [ABSTRACT FROM AUTHOR]

In this paper, we collected all our patients affected by myasthenia gravis (MG) who received the 3 doses of the Pfizer/BioNTech COVID-19 vaccine, reporting useful information about the clinical course post-vaccination. Vaccines (Basel) 9(10):1112. https://doi.org/10.3390/vaccines9101112 5 Nelke C, Stascheit F, Eckert C et al (2022) Independent risk factors for myasthenic crisis and disease exacerbation in a retrospective cohort of myasthenia gravis patients. We excluded from the analysis patients who experienced COVID19 infection before, during, and after the vaccine cycle and patients who did not receive the vaccine at our center, and some of them chose indeed to receive the vaccine at their territorial hospital or refused it. [Extracted from the article]

Background: Cervical dystonia (CD) patterns may change with Botulinum toxin (BoNT) treatment. Objective: To evaluate the time within those changes usually occur, the most predisposed phenotypes and predisposing factors. Methods: We divided idiopathic CD patients into two groups– change YES and NO, collecting general clinical and demographic variables. We also evaluated duration of BoNT treatment, Tsui total scores and subscores - assessed at T0 - before BoNT start - and at T1– time to chenge in the YES group or last visit in the NO group. The risk of pattern change was assessed by Kaplan Meyer curves and Cox regression analysis. Finally, Multivariate linear regressions were employed to assess if Tsui severity correlated with the change. Results: Among 100 patients (60 women), 37 experienced a phenotype switch, mostly in the first five years of BoNT treatment, YES and NO groups were comparable. Multivariate Cox Regression revealed the presence of laterocollis or rotatocollis at T0 as predictors of switch (respectively P = 0.01, HR = 3.5; P = 0.03, HR = 1.5). Multivariate linear regressions revealed that high Tsui subscores for the tilt and low Tsui total scores were risk factors for the change of pattern (respectively P = 0.002, OR = 6; P = 0.03, OR = 0.8). Conclusions: Latero and Rotatocollis are the CD phenotypes most predisposed to change. CD characterized by neck tilt are more likely to change phenotype following treatment. Dystonias with a low degree of severity are more predisposed to switch. Both, the different degree of muscle activation and BoNT mechanism of action, may impact on that phenomenon. [ABSTRACT FROM AUTHOR]

Background and aims: Recent years have witnessed the switch from considering essential tremor (ET) a monosymptomatic disorder to consider it as part of a spectrum, including other neurological signs, such as mild cognitive impairment and dementia, thus defining it as "ET plus." There are few data on cognitive impairment in ET patients. The aim of this review is to analyze the clinical characteristics of ET patients developing cognitive impairment, their neuropsychological profile, the underpinning mechanisms, and the possible biomarkers. Methods: The authors performed a narrative review on cognitive decline in essential tremor, including articles written in English since the year 2000. Discussion: The most recent pathogenetic theories of cognitive impairment in ET rely on the cerebellar dysfunction, being part of the Cerebellar Cognitive Affective Syndrome spectrum. Cognitive impairment in ET patients could be assessed through many tests that demonstrate the involvement of different domains, such as attention, executive functions, and language. There are some clinical characteristics of ET that may indicate a greater risk of developing cognitive impairment, namely, cerebellar symptoms, falls, age at onset, and family history. However, there are no established clinical, neurophysiological, neuropathological, and fluid biomarkers of cognitive impairment in ET. Conclusions: Increasing data are showing in ET the presence of cerebellar symptoms and cognitive impairment. Further studies are needed to better understand cognition in ET patients, and to define the boundary between ET and ET plus, since deeper phenotyping might have important clinical and therapeutic implications. [ABSTRACT FROM AUTHOR]

Publisher's note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. The original article can be found online at https://doi.org/10.1007/s10072-023-06727-7 B Correction to: Neurological Sciences (2023) b https://doi.org/10.1007/s10072-023-06727-7 The original article contains an error during online publication. [Extracted from the article]