Channelopathies are disorders caused by ion channel dysfunction. Because of the great diversity of ion channel proteins and their expression in different tissues, channelopathies comprise a wide variety of clinical diseases ( Table 98.1 ), the discovery of which helps…
It is important for the practicing clinician to make the distinction between the term motor neuron disease (MND) and motor neuron diseases (MNDs). The intention of the first term, coined by Brain in 1969, is to refer to a specific…
Movement Disorders and the Basal Ganglia Neurologists often equate movement disorders with disease or dysfunction of the basal ganglia, so no review of movement disorders would be complete without a discussion of these subcortical structures and their connections. In some…
Normal Aging and Mild Cognitive Impairment Normal Aging A cognitive continuum exists from normal aging through mild cognitive impairment (MCI) to dementia. This continuum is better understood when realizing that it occurs on a background of some degree of cognitive…
Prion (pronounced pree-ahn ) diseases (PrDs) are a group of uniformly fatal neurodegenerative diseases caused by the transformation of an endogenous protein, PrP (prion-related protein), into an abnormal conformation (misfolded protein) called the prion . The term prion is derived…
The bacterial hypothesis of the origin of mitochondria suggests that approximately 1–2 billion years ago, alpha-purple bacteria were incorporated into evolving eukaryotic cells. During evolution, these bacteria transferred many of their essential genes to the nuclear chromosomes. Mitochondria still have…
Acknowledgments We thank Dr. Aviva Tolkovsky for her critical review of the original manuscript and Dr. Janelle Drouin-Ouellet for her help with the figure. Neurodegenerative disorders of the central nervous system (CNS) are characterized by the loss of specific populations…
Acknowledgment This chapter, updated from the prior edition, was originally a revised version of the chapter by G.M. Pastores in the sixth edition. The concept of inborn errors of metabolism (IEM) was introduced by Sir Archibald Garrod in the 1908…
Autism Spectrum Disorders Diagnostic Criteria Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in two areas: (1) deficits in social communication and social interactions; and (2) restricted and repetitive patterns of behavior, interests, and activities ( ).…
Embryological and Fetal Development of the Nervous System Neuroembryology integrated with molecular genetics provides the key to understanding congenital malformations of the nervous system. Modern neuroembryology or ontogenesis encompasses not only classical descriptive morphogenesis but also the molecular genetic programming…