First definition of this devastating disease was given by Aran 1850, while 1869 was the year when French neurologist Scharco provided the public with a wider and more detailed description of the illness, putting an emphasis onto its effect on the corticospinal pathway. In his honor you might hear about Scharco’s disease, as it was given to it in his honor. Lou Gehrig has died on top of his career due to this disease back in 1941. In American literature description of the amyotrophic lateral sclerosis can commonly be found under his name. Another worldwide known name is Stephen Hawking, who is considered to be the most successful astrophysicist of the modern era. He’s been dealing with motor neurone disease back from the 1960s.
Definition of motor neurone disease
Amyotrophic lateral sclerosis is the most common type of motor neurone disease. It is a disease which affects the lower motor neuron (LMN), localized within the brainstem and some parts of the lateral spinal cord, spreading all the way up to the muscles and into the upper motor neuron (UMN).
Sporadic, chronic disease of the neurone motor
- Affecting upper and lower motor neuron (ALS)
- With predominant affecting of the upper motor neuron (primary lateral sclerosis)
- With predominant affecting of the lower motor neuron;
- Multifocal motor neuropathy with conductive block
- Motor neuropathy with paraproteinemia or cancer
- Conditions connected to other degenerative disorders – amyotrophic lateral sclerosis, Parkinson’s, demention, UMN in 97% of cases
- Secondary disease of the motor neuron as the paraneoplastic syndrome.
Hereditary diseases of neurone motor
- Affecting upper and lower motor neuron, auto somatic dominant form and auto somatic recessive form
- Affecting lower motor neuron:
- Spinal muscular atrophy
- Spin bulbar muscular atrophy connected in an “X”
- GM2 gangliosidosis
- Sandhoff’s Disease
Central pathologic facts are that disease affects motor neuron pathways within the brain. Loss of motor neurons is most significant in the lumbal, then cervical part and less in brainstem. Death of cells isn’t proven inside the motor cortex. On a subcellular level disease manifests itself with involution, gathering of the bodies assembled in the motor cortex. Patients will experience astrogliosis, and while some scientists note accumulation of lymphocytes, others negate the presence of any sort of inflammatory reaction. In the cells themselves aggregates of ubiquitin positive cytoskeletal elements are being accumulated such as neurofilaments, fragmentation of the Goldie’s apparatus and assembly and tearing of cytoskeletal matter in the proximal part of axon. Up until today there have been almost 50 SOD1 mutations recognized with families who are dealing with familiar ALS. SOD1 is an enzyme which functions as a homo dimmer containing two proteins from 153 amino acids. This enzyme converts the superoxide anion into hydrogen peroxide, which converts further to free radicals and based on that dictates the reactions to follow.