In this chapter we propose a strategy for evaluating patients with concerns about their memory and/or other aspects of cognition that will lead to a diagnosis and treatment plan. Quick…
Abstract Spinal muscular atrophy (SMA) is a devastating neurodegenerative disease that impacts approximately 1:10,000 live births. SMA is caused by deletion or loss-of-function mutations in the Survival Motor Neuron 1…
Abstract Amyotrophic lateral sclerosis (ALS) is a challenging disease characterized by progressive loss of motor neurons. This is manifested in deterioration of strength, gait, speech, swallowing, respiratory function, and eventually…
Abstract Spinal muscular atrophies (SMAs) include a series of neuromuscular genetic disorders due to mutations in the survival motor neuron 1 ( SMN1 ) gene. The SMA 5q form represents…
Abstract Diseases that afflict the nervous system remain among the most difficult pathologies for clinicians to manage. Currently there are nearly 1000 clinical trials that have been launched worldwide to…
Abstract 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, astrogliosis and…
Abstract 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…
Abstract Motor neurons (MNs) are a diverse group of cells without which life would not be possible. MNs are responsible for integrating signals from the brain and the sensory systems…
Abstract Amyotrophic lateral sclerosis (ALS) is a progressive, fatal, neurodegenerative disorder whose pathological hallmark is the loss of motor neurons of the corticospinal pathway. While ALS is a heterogeneous disorder,…
Abstract Spinal muscular atrophy (SMA) is a group of disorders defined by specific lower motor neuron involvement. Proximal 5q SMA, the most common of these disorders, is caused by loss…
