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Indices of comparative cognition: assessing animal models of human brain function
Understanding the cognitive capacities of animals is important, because (a) several animal models of human neurodegenerative disease are considered...
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Mining the transcriptome for rare disease therapies: a comparison of the efficiencies of two data mining approaches and a targeted cell-based drug screen
Most monogenic diseases can be viewed as conditions caused by dysregulated protein activity; therefore, drugs can be used to modulate gene...
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A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
BackgroundNeuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical...
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The fading trail of the sleepy wraith
Encephalitis lethargica was an enigma throughout its one and only epidemic. All those who have concerned themselves with this disease have been...
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Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis
The neuronal ceroid lipofuscinoses (NCLs) are the most common cause of childhood dementia and are invariably fatal. Early localized glial activation...
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Adeno-associated virus vector as a platform for gene therapy delivery
Adeno-associated virus (AAV) vectors are the leading platform for gene delivery for the treatment of a variety of human diseases. Recent advances in...
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Gene Therapies for Polyglutamine Diseases
Polyglutamine diseases are hereditary degenerative disorders of the nervous system that have remained, to this date, untreatable. Promisingly,...
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Nutrition and Hydration in Palliative Care and Their Diverse Meanings
Essential for life, food and fluids are regarded as basic care, professionally, ethically, and legally. This chapter seeks to contextualize and...
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Meeting report: mobile genetic elements and genome plasticity 2018
The Mobile Genetic Elements and Genome Plasticity conference was hosted by Keystone Symposia in Santa Fe, NM USA, February 11–15, 2018. The...
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Revisiting the Clinical Phenomenology of “Cerebellar Tremor”: Beyond the Intention Tremor
Tremor is an involuntary, rhythmic, oscillatory movement of a body part. It is a central feature of a range of diseases resulting from pathological...
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Delivery of Biologics Across the Blood–Brain Barrier with Molecular Trojan Horse Technology
Biologics are potential new therapeutics for many diseases of the central nervous system. Biologics include recombinant lysosomal enzymes,...
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Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons
Premature termination codons (PTCs) in the coding regions of mRNA lead to the incorrect termination of translation and generation of non-functional,...
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Autophagic Modulation by Trehalose Reduces Accumulation of TDP-43 in a Cell Model of Amyotrophic Lateral Sclerosis via TFEB Activation
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease characterized by the formation of protein inclusion and...
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Analog Genetics
Analog genetics describes a continuum of outcomes, phenotypes, created by a discrete or digital set of base pairs in a genome. The concept is in...
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Phase 1/2 trial of SARS-CoV-2 vaccine ChAdOx1 nCoV-19 with a booster dose induces multifunctional antibody responses
More than 190 vaccines are currently in development to prevent infection by the novel severe acute respiratory syndrome coronavirus 2. Animal studies...
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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
PurposeTo investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20...
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Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, is a debilitating neurological disorder that affects both children and adults....
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Bluetongue: Aetiology, Epidemiology, Pathogenesis, Diagnosis and Control
Bluetongue (BT) is an emerging and re-emerging vector-borne viral disease of domestic and wild ruminants, caused by viruses classified within the...
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Autoimmunity
The dogma of the immunological privilege of central nervous system (CNS) has been increasingly challenged by compelling evidence showing reciprocal...