Clinical Neuroscience

Introduction

• 1.

  Why is it important to understand the cellular, molecular, and genetic mechanisms that govern normal and abnormal nervous system function?

  • To select the most appropriate diagnostic tests and interpretation of test results

  • To optimize drug therapy by mechanisms of action, interactions, side effect profiles

  • To educate patients and their families about their diseases and prognoses

  • To aid in the critical review of rational drug design and clinical trials

• 2.

  What cellular alterations lead to neurological disease or affect management/prognosis?

  • Loss of neurons (e.g., neurodegenerative conditions)

  • Injury of axons (e.g., traumatic brain injury)

  • Reorganization of synaptic connections (e.g., deafferentation pain)

  • Disruption of the blood–brain barrier (BBB) (e.g., stroke)

• 3.

  What molecular alterations lead to neurological disease or affect management/prognosis?

  • Excitation–contraction uncoupling (e.g., channelopathies)

  • Dysfunctional volume regulation (e.g., cytotoxic edema)

  • Altered membrane excitability (e.g., epilepsy)

  • Conduction abnormalities (e.g., demyelinating conditions)

  • Oxidative stress (e.g., mitochondrial disorders)

  • Autoimmune attack of receptors (e.g., myasthenia gravis)

• 4.

  Why is the presence of genetic alterations relevant in neurologic diseases?

  • They may reveal propensity for decreased drug efficacy.

  • They may reveal susceptibility to drug toxicity.

  • They may provide presymptomatic diagnoses.

  • They may be prognostic.