SPG20
The SPG20 Gene: An Intriguing Player in Neurological Health
Description
The SPG20 gene, situated on chromosome 13q14.3, encodes a protein known as spatacsin. Spatacsin plays a crucial role in the formation and maintenance of synapses, the communication points between neurons. It is essential for the proper functioning of the nervous system, particularly for motor coordination, balance, and speech.
Associated Diseases
Mutations in the SPG20 gene have been linked to a group of inherited disorders collectively referred to as spastic paraplegia type 20 (SPG20). SPG20 is a rare condition characterized by progressive weakness and stiffness in the legs, leading to difficulties with walking and balance. Other symptoms may include muscle spasms, tremors, and difficulties with speech and fine motor skills.
Did you Know ?
The prevalence of SPG20 is estimated to be around 1 in 100,000 individuals. It is more common in certain ethnic groups, such as the Japanese and Finnish populations.
