Individual Liberty and the Importance of the Concept of the People

UID/FIL/00183/2013Through publically agreed laws that correspond to a common set of public restrictions, the ‘people as a sovereign body’ serves to protect against violations of individual liberty and despotic power. Where no such common body exists, individuals are deprived of this protection. In such cases, individuals must obey without liberty, while those in power command under a state of license. Neoliberal theorists maintain that any common personality, with its corresponding set of public and arbitrary positive and negative restrictions on liberty, undermines individual liberty. Neoliberal theory only allows for private restrictions on liberty. Against these neoliberal assumptions, we argue that rejecting public restrictions on liberty does not promote individual liberty. To the 1᢫ ᢬ ᢭ ᢮ 1 contrary, it creates conditions in which free individuals become servile and political inequality becomes entrenched, where citizens are divided into those who obey and those who command. Tracing the consequences of neoliberalism, we argue that unless we take seriously both the people as a political category and the right to equal and reciprocal coercion, individual liberty will be at risk. We also argue that neoliberalism ultimately leads to the total exclusion of certain citizens under the veil of full liberty. With the vanishing of the people’s will comes the utter disappearance of certain citizens, who live in the spontaneous society as if they were stateless or lawless persons. To better understand the connections between the rejection of the concept of the people, private restrictions on liberty and the fostering of the servile citizen, this paper considers the political philosophy of Hayek and Nozick. It also considers key ideas from Locke and Kant—theorists who, despite the differences between their philosophical perspectives, and despite the fact that they both provided crucial inspiration for Hayek’s political economy and Nozick’s libertarianism, stressed the protective role of the people with regard to individual liberty.publishersversionpublishe

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families. In addition, 25/47 affected individuals (53%) presented with microcephaly, developmental delay/intellectual disability, cerebral palsy, and/or epilepsy. Modeling indicated damaging effect of variants on the protein, largely via destabilizing effects on protein domains. Brain imaging revealed diminished cerebral volume, thin corpus callosum, and periventricular leukomalacia, and quantitative volumetry demonstrated significantly diminished white matter volumes in several individuals. Immunofluorescent imaging in rat hippocampal neurons revealed localization of Spata5l1 in neuronal and glial cell nuclei and more prominent expression in neurons. In the rodent inner ear, Spata5l1 is expressed in the neurosensory hair cells and inner ear supporting cells. Transcriptomic analysis performed with fibroblasts from affected individuals was able to distinguish affected from controls by principal components. Analysis of differentially expressed genes and networks suggested a role for SPATA5L1 in cell surface adhesion receptor function, intracellular focal adhesions, and DNA replication and mitosis. Collectively, our results indicate that bi-allelic SPATA5L1 variants lead to a human disease characterized by sensorineural hearing loss (SNHL) with or without a nonprogressive mixed neurodevelopmental phenotype

Oxidative abnormalities in Menkes disease

Menkes disease (MD; McKusick 309400) is an X-linked neurodegenerative disorder secondary to extrahepatic copper accumulation, caused by mutations of the gene encoding for the intracellular copper transporter ATPase alpha polypeptide (ATP7A). The clinical picture is characterized by severe psychomotor retardation, seizures, skin hypopigmentation and abnormal hair. Biochemically, MD patients have reduced serum levels of copper and ceruloplasmin. In some cases, early supplementation with parenteral copper histidinate reduced seizure activity and improved muscle tone and motor activity. Some of the clinical findings of MD have been proposed to be secondary to reduced activities of copper-dependent enzymes (i.e. cytochrome-c-oxidase, lysyl oxidase and dopamine β-hydroxylase). To study oxidative status and effects of copper histidinate therapy, we serially evaluated urinary organic acids in MD patients. We also evaluated respiratory chain enzymes activities in muscle and/or fibroblasts