BackgroundValosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget’s disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype–phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype–phenotype correlations.MethodsDescriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene.ResultsTwo hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8±9.6 years and mean age of onset 45.6±9.3 years. Mean diagnostic delay was 7.7±6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8±7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC <70% and being a full-time wheelchair user were associated with death.ConclusionThis study expands the knowledge on the phenotypic presentation, natural history, genotype–phenotype correlations and risk factors for disease progression of VCP disease and is useful to improve the care provided to patient with this complex disease.

IntroductionPrevalence of type 2 diabetes (T2D) is increasing rapidly and lifestyle interventions to reverse diabetes are seen as a possible solution to stop this trend. New practice-based evidence is needed to gain more insight in the actual, and above all scientific, basis for these claims.MethodsThis observational study with a pretest post-test design aimed to pilot a 6-month multicomponent outpatient group-based nutrition and lifestyle intervention programme on glycaemic control and use of glucose lowering medication in motivated T2D patients with a body mass index (BMI) >25 kg/m2 in the Netherlands (February 2015–March 2016).Results74 T2D patients (56% female) aged 57.4±8.0 years with mean BMI 31.2±4.2 kg/m2 and mean waist circumference 105.4±10.2 cm were included in the study. Compared with baseline, mean HbA1c levels at 6 months were 5 mmol/mol lower (SD=10, p<0.001) and the number of participants with HbA1c levels ≤53 mmol/mol after intervention had increased (from 36% (n=26/72) to 60% (n=43/72)). At baseline, 90% of participants were taking at least one type of glucose lowering medication. At 6 months, 49% (n=35/72) of the participants had reduced their medication or eliminated it completely (13%). Secondary outcomes were significantly lower fasting glucose levels (− 1.2±2.6 mmol/L), body weight (−4.9±5.1 kg), BMI (−1.70±1.69 kg/m2) and waist circumference (−9.4±5.0 cm). Plasma lipids remained unchanged except for a decrease in triglyceride levels. Furthermore, self-reported quality of life was significantly higher while experienced fatigue and sleep problems were significantly lower.ConclusionThis pilot study showed that a 6-month multicomponent group-based program in a routine care setting could improve glycaemic control and reduce the use of glucose lowering medication in motivated T2D diabetics. A fully scaled study is needed to confirm these results.

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A 17-year-old girl with progressive lipid-storage myopathy for 2 years had low muscle carnitine levels. There was no therapeutic response to prednisone and DL-carnitine-HCl. Chemical findings indicated glutaric aciduria type II. Riboflavin therapy and a fat-restricted, carbohydrate-enriched diet resulted in dramatic improvement. Low carnitine concentrations in plasma and muscle were observed in three asymptomatic sisters who had normal urinary excretion patterns. There was impaired mitochondrial beta-oxidation in cultured skin fibroblasts from the index patient and all three siblings.

Background and purpose: Due to the COVID-19 pandemic, scientific congresses are increasingly being organized as virtual congresses (VCs). In May 2020, the European Academy of Neurology (EAN) held a VC, free of charge. In the absence of systematic studies on this topic, the aim of this study is to evaluate the attendance and perceived quality of the 2020 EAN VC compared to the 2019 EAN face-to-face congress (FFC).Methods: An analysis of the demographic data of participants obtained from the online registration was done. A comparison of the two congresses based on a survey with questions on the perception of speakers' performance, quality of networking and other aspects was made.Results: Of 43,596 registered participants, 20,694 active participants attended the VC.Compared to 2019, the number of participants tripled (6916 in 2019) and the cumulated number of participants attending the sessions was five times higher (169,334 in 2020 vs. 33,024 in 2019). Out of active participants 55% were from outside Europe, 42% were board-certified neurologists (FFC 80%) and 21% were students (FFC 0.6%). The content of the congress was evaluated as 'above expectation' by 56% of the attendees (FFC 41%).