Situation and Introduction The characteristic symptoms of neurological disorders are caused by the dysfunction or death of cells required for normal function of the central and/or peripheral nervous system. Neural pathways, originating from the highest brain levels, send out complex…
Introduction Spinal muscular atrophies (SMAs) include a series of neuromuscular genetic diseases in which spinal motor neurons degenerate leading to progressive paralysis with proximal muscular atrophy. The most frequent condition is caused by mutations of the survival motor neuron 1…
Introduction In the past 20 years, spinal muscular atrophy (SMA) has progressed from a disease of unknown cause to a disease that is generating excitement with multiple ongoing clinical trials for disease-specific therapeutics. This rapid advancement has been beneficial not…
Introduction Amyotrophic lateral sclerosis (ALS) is a terrifying diagnosis that strikes at the core of an individual’s function and productivity. The disease is characterized by progressive and selective degeneration of upper and lower motor neurons. This manifests as an insidious,…
Introduction As discussed in Chapter 4 , Molecular Mechanisms of Amyotrophic Lateral Sclerosis, amyotrophic lateral sclerosis (ALS) is a disease with a poorly understood etiology. There are a wide variety of abnormalities present, including mitochondrial dysfunction, glutamate excitotoxicity, oxidative stress,…
Introduction Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), are devastating neurodegenerative diseases that are progressive and fatal. There is no cure and the current standard of care is merely palliative. For example, riluzole…
Introduction Spinal muscular atrophy (SMA) refers to a group of disorders that affect the lower motor neuron, and a number of genes have been defined that cause SMA. The most common SMA is proximal SMA that maps to chromosome 5q.…
Introduction: Epidemiology The neurodegenerative disease spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality worldwide. Incidence and prevalence estimates vary widely across populations sampled; studies have estimated the incidence of SMA at 7.8 in 100,000 births (Northeast…
Introduction Amyotrophic lateral sclerosis (ALS) is recognized as the most common form of adult-onset motor neuron disease. This progressive, fatal neurodegenerative disorder occurs in approximately two persons per 100,000. Since the initial description of the symptoms and associated pathology in…
Introduction Studies of disease concordance rates among monozygotic and dizygotic twins suggest that 53–84% of amyotrophic lateral sclerosis (ALS) population risk is genetically determined. * * Refers to the proportion of disease risk that is genetically determined both within and…