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Mechanism-Based Therapy of Genetic Neurological Disease

  • E. Steve Roach
    Correspondence
    Communications should be addressed to: Dr. Roach; Nationwide Children's Hospital; Ohio State University College of Medicine; Division of Child Neurology E583; 700 Children's Drive; Columbus, OH 43245.
    Affiliations
    Division of Child Neurology, Nationwide Children's Hospital, Ohio State University College of Medicine, Columbus, Ohio
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      For the past 30 years, new gene discoveries and new insights into the molecular mechanisms of genetic diseases have appeared at a dizzying pace. These discoveries spawned hope for rapid diagnostic and therapeutic advances based on a deepening understanding of the molecular biology of these conditions, but progress toward these practical aims was slow aside from the improved diagnostic accuracy for some of the conditions.
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      Linked Article

      • Mechanism-Based Treatments in Neurodevelopmental Disorders: Fragile X Syndrome
        Pediatric NeurologyVol. 50Issue 4
        • Preview
          Fragile X syndrome (FXS) is the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders. Recent major advances have been made in the understanding of the neurobiology and functions of fragile X mental retardation protein, the FMR1 gene product, which is absent or reduced in FXS, largely based on work in the fmr1 knockout mouse model. FXS has emerged as a disorder of synaptic plasticity associated with abnormalities of long-term depression and long-term potentiation and immature dendritic spine architecture, related to dysregulation of dendritic translation typically activated by group I mGluR and other receptors.
        • Full-Text
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      • Mechanism-Based Treatment in Tuberous Sclerosis Complex
        Pediatric NeurologyVol. 50Issue 4
        • Preview
          Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that affects the brain in almost every patient. It is caused by a mutation in the TSC1 or TSC2 genes, which regulate mammalian target of rapamycin (mTOR), a key player in control of cellular growth and protein synthesis. The most frequent neurological symptoms are seizures, which occur in up to 90% of patients and often are intractable, followed by autism spectrum disorders, intellectual disability, attention deficit-hyperactivity disorder, and sleep problems.
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        • PDF