amyotrophic lateral sclerosis (als) misdiagnosis has many broad implications for the patient and the neurologist. potentially curative treatments exist for certain als mimic syndromes, but delay in starting these therapies may have an unfavorable effect on outcome. hence, it is important to exclude similar conditions. in this review, we discuss some of the important mimics of als.

Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the neurodegenerative disease amyotrophic lateral sclerosis. When the first SOD1 mutations were identified they were postulated to give rise to amyotrophic lateral sclerosis through a loss of function mechanism, but experimental data soon showed that the disease arises from a--still unknown--toxic gain of fu...

Amyotrophic lateral sclerosis is a neurodegenerative disease that is incurable and results in paralysis of the muscles. Different forms of amyotrophic lateral sclerosis are explained with case studies to demonstrate how they are diagnosed in real patients. Two forms of magnetic resonance imaging (MRI) are discussed showing how the disease affects the human brain. Electromyography is used to dia...

neurodegenerative disorders such as huntingtons disease, alzheimers disease, parkinsons disease, amyotrophic lateral sclerosis, spinal muscular atrophy, friedreichs ataxia, and others are multi-factorial illnesses in which many pathways (still poorly understood) act serially and in parallel to give a determined pathologic phenotype. thus, presently there are no effective cures for these disease...

Knowledge about the nature of pathomolecular alterations preceding onset of symptoms in amyotrophic lateral sclerosis is largely lacking. It could not only pave the way for the discovery of valuable therapeutic targets but might also govern future concepts of pre-manifest disease modifying treatments. MicroRNAs are central regulators of transcriptome plasticity and participate in pathogenic cas...

amyotrophic lateral sclerosis (als), the most common form of motor neuron disease, is a progressive and devastating disease involving both lower and upper motor neurons, typically following a relentless progression towards death. therefore, all efforts must be made by the clinician to exclude alternative and more treatable entities. als with laboratory abnormalities of uncertain significance is...

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ~40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical d...

Spasticity is a common and disabling symptom observed in patients with central nervous system diseases, including amyotrophic lateral sclerosis, a disease affecting both upper and lower motor neurons. In amyotrophic lateral sclerosis, spasticity is traditionally thought to be the result of degeneration of the upper motor neurons in the cerebral cortex, although degeneration of other neuronal ty...

OBJECTIVES To find out if conventional and automatic needle EMG of the tongue can be helpful in the diagnosis and differentiation of limb and bulbar onset amyotrophic lateral sclerosis. METHODS Motor unit action potential (MUAP) analysis and peak ratio interference pattern analysis were performed in the right genioglossus muscle of 30 healthy subjects aged 30-81 years, 10 patients aged 49-73 ...