Genetic Pathology

What is the genetic pathology of the disorder? Essentially, how is the gene responsible for the symptoms that an afflicted individual is experiencing?

To understand Leukodystrophy, one should have knowledge on the Nervous System. It is made up of the CNS (Central Nervous System) and the PNS (Peripheral Nervous System). These two components are the major components of the nervous system and are responsible for nearly everything we do because they carry and receive signals that lead to basically everything we do.

The CNS

(Central Nervous System)

Nervous System

• The spinal cord
• The brain
• Neurons

The PNS

(Peripheral Nervous System)

• The rest of the neurons in the body (Sensory Neurons and Motor Neurons)

Myelin is another important factor which relates to both Leukodystrophy and the Nervous System. Myelin is often referred to as ‘white matter’ it is like a protective coat over neurons. With the help of the protective coat (myelin), neurons are able to transmit signals at the right speed. However, if the coat is damaged, then the neurons’ transmit signals at a slower speed which causes disruption in the proper functioning of the nervous system.

Myelin

Due to the Nervous System not being able to function normally, the symptoms that are signaled are the reason why. Leukodystrophy is an autosomal recessive. 

Autosomal Recessive