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PRUNE1 is linked to a wide range of neurodevelopmental and neurodegenerative phenotypes. Multiple pathogenic missense and stop-gain PRUNE1 variants were identified in its DHH and DHHA2 phosphodiesterase domains. Conversely, a single splice alteration was previously reported. We investigated five patients from two unrelated consanguineous Sudanese families with an inherited severe neurodevelopmenta
Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature. Abnormalities in multiple cellular processes are implicated in their pathogenesis, including lipid metabolism; but still 40% of the patients are undiagnosed. Our goal was to identify the disease-cau
Hereditary spinocerebellar degeneration (SCD) encompasses an expanding list of rare diseases with a broad clinical and genetic heterogeneity, complicating their diagnosis and management in daily clinical practice. Correct diagnosis is a pillar for precision medicine, a branch of medicine that promises to flourish with the progressive improvements in studying the human genome. Discovering the genes
Background: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of the urea cycle, presents after the first year of age with regression of milestones and evolves gradually into progressive spastic quadriplegia and cognitive dysfunction. Genetic studies reported various mutations in the ARG1 gene that resulted in hyperargininemia due to a comple
Genetic mutations associated with brain malformations can lead to a spectrum of severity and it is often difficult to determine whether there are additional pathogenic variants contributing to the phenotype. Here, we present a family affected by a severe brain malformation including bilateral polymicrogyria, hydrocephalus, patchy white matter signal changes, and cerebellar and pontine hypoplasia w
Background: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column. The disease is caused by mutations in the DARS2 gene but has never been reported in sub-Saharan Africa so far. Case presentation: Two s
Background: Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills, optic atrophy and progressive spastic tetraparesis. Studies of INAD in Africa are extremely rare, and genetic studies from Sub Saharan Africa are almost non-existent. Case pre
It has been suggested that an intensified trade war between China and the US could reduce CO2 emissions associated with exports. We develop an export-greenfield-endogenous merger model, showing that significantly increased tariffs can enable domestic firms to undertake entry-deterring acquisitions. This forces foreign firms to remain exporters, which, in turn, leads to higher emissions. Strong com
In this paper, we investigate how the lockdown-induced exposure to remote work affected the likelihood of switching to longer commutes using a longitudinal full-population register of Swedish employees. We find that employees with little experience of longer commutes were more likely to start commuting longer if they had occupations with high potential for remote work. Examining heterogeneity acro
This paper presents a decision-analytic approach for evaluating risk reduction actions for structural systems under climate change. A decision-theoretic formulation is developed to quantify the value of actions, extended to address climate change scenario uncertainties. Scenario occurrence probabilities are derived from probabilistic effective radiative forcing exceedances to link climate model pr
Death is the prerequisite of life, life the prerequisite of death, just like chaos and order, light and shadow, joy and despair, love and grief, are each other's premises. When life breaks into pieces, despair may ensue, but darkness offers possibilities to tap into the light. The use of experiential somatic practices and creative expressions can reach deep and help illuminate conscious and uncons
Recent advances in instrumentation have sparked a transformative journey in materials science, providing insights into the intricate relationship between processing, structure and properties. Among them, cutting-edge in situ micro- and nanoscale mechanical characterization methods, equipped with exceptional spatial and temporal resolution, such as instrumented electron microscopy, X-ray imaging an
Protein aggregation is a hallmark of several neurodegenerative diseases, including Alzheimer’s disease, Parkinson’s disease and dementia with Lewy bodies. A common feature of these disorders is the misfolding and aggregation of α-synuclein (α-syn) and amyloid-β (Aβ) proteins into amyloid structures, which disrupt cellular homoeostasis and drive disease progression. While Aβ typically forms extrace
“Right to repair” (R2R) has become an important policy objective in European Union (EU) policy and law. The main objective of R2R is to remove barriers that inhibit consumers from repairing the products they own. The EU has made use of different regulatory frameworks to enforce R2R, most notably product regulation to induce design changes and ensure that spare parts and software updates are availa
This chapter reviews the historical development of the regulation of waste and chemicals in both international law and European Union (EU) law after the 1972 Stockholm Conference as well as some of the subsequent trends and themes. It also highlights the relevant interactions between EU and international law on these issues. The chapter ends with a discussion of how the regulatory frameworks relat
