Amyotrophic lateral sclerosis is a neurological disease which impacts motor neurons that are involved in muscle movement throughout the body. The progressive degeneration of neurons causes weakened muscles and can lead to paralysis. There is no cure for ALS, but riluzole has been used to help with the damage to the motor neurons.
C9RANT is a newly discovered protein-like chain that holds great potential promise as a benchmark for measuring disease activity and therapeutic response for patients with the devastating conditions of amyotrophic lateral sclerosis (ALS) and dementia. Mutations within a non-coding region of the C9ORF72gene are responsible for 20-40% of cases of familial ALS1. This class of mutations generates repetitive, high molecular weight RNA chains which are insoluble and aggregate within the brain as C9RANT accumulations.
Glial Fibrillary Acidic Protein (GFAP) is one of the major intermediate filament axonal proteins found in mature astrocytes, the star-shaped glial cells that comprise the majority of cells within the central nervous system (1).
The exact function of Peripherin, or Neurofilament 4, is unknown however it has been suggested to play a role in axon formation and determining and maintaining the shape of nerve cells. Peripherin is a 470 amino acid Class-III neuronal intermediate filament protein. It has two isoforms produced by alternative splicing, one with a molecular weight of 53.651 KDa and one with a molecular weight of 53.779 KDa.
Ataxin antibodies are used in the study of autosomal dominant cerebellar ataxia (ADCA) diseases. These neurodegenerative disorders are highly heterogeneous, characterized by progressive, irreversible, atrophy of the cerebellum and spinal cord.
