Introduction: Argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder characterized by lower limb spasticity. This study presents 7 patients with arginase 1 deficiency from 6 different families, all with an initial diagnosis of complicated HSP.
Methods: We evaluated the clinical data of 7 patients belonging to six independent families who were diagnosed with hyperargininemia in a neurogenetics outpatient clinic.
Results: All patients had lower limb spasticity and six had global developmental delay. Five individuals had intellectual disability and two had epilepsy. Psychiatric abnormalities were seen in two patients. In two participants of this study, MRI disclosed thinning of the corpus callosum. Molecular diagnosis was made by whole exome sequencing. All variants were present in homozygosis; we identified two novel missense variants, one novel frameshift variant, and one previously published missense variant.
Discussion: Clinical diagnosis of early onset complicated hereditary spastic paraplegia was made in all patients. Two patients were initially suspected of having SPG11 due to thinning of the corpus callosum. As argininemia may present with a highly penetrant phenotype of spastic paraplegia associated with additional symptoms, this disease may represent a specific entity amongst the complicated HSPs.
A 59-year-old man was admitted with respiratory tract infection, compromised conscience and generalized tonic–clonic seizures. His medical history included schizophrenia diagnosis, for which he had been being treated since he was 27 years old. EEG disclosed non-convulsive status epilepticus. A magnetic resonance image (MRI) acquired 3 days later showed increased left hippocampal volume with hyperintensity on T2-weighted and FLAIR sequences. After being treated with antibiotics and antiepileptic medications, the patient’s condition improved. A follow-up MRI showed reduction of the left hippocampus. The relationship between epilepsy and schizophrenia is not yet clear. This case illustrates this interaction. Hippocampal atrophy may have been caused by environmental aggression in the present patient with schizophrenia, perhaps in association with a predisposing genotype.
Smallholders' contribution to Amazonian deforestation is currently increasing. In Indigenous Lands, changes in land uses might be partially due to the unintended effects of anti-poverty strategies, including the Conditional Cash Transfers (CCTs), which may promote the conversion of
forests to agricultural lands. Despite that, little is known about whether and how CCTs affect long-term deforestation rates. Thus, this study has assessed whether CCTs influenced long-term land-use changes from forests to agriculture, considering alternative time allocation assumptions (i.e.,
Time Optimisation and Time Budget). Transfers from the Brazilian Bolsa Família Program to the Khĩsêtjê indigenous people of the Amazon were evaluated with two agent-based models. Results suggest CCTs will likely decrease the area deforested in the long term
without changing Khĩsêtjê's population size. When market-purchased products replace local products, people's time allocated to agriculture is expected to fall. The intensity of CCT effects on deforestation varied according to time allocation assumptions, highlighting the
importance of considering them carefully to improve the predictions from model simulations.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.