10

Which are the causes of Lissencephaly?

See some of the causes of Lissencephaly according to people who have experience in Lissencephaly

Lissencephaly causes

Lissencephaly is a rare genetic disorder that affects brain development. It is characterized by the absence or underdevelopment of the folds and grooves in the brain's surface, giving it a smooth appearance. This condition can lead to severe intellectual and developmental disabilities, as well as various neurological problems.



The causes of lissencephaly can be attributed to genetic mutations. There are two main types of lissencephaly: classical lissencephaly (Type I) and cobblestone lissencephaly (Type II), each with different genetic causes.



1. Classical Lissencephaly (Type I):


Classical lissencephaly is primarily caused by mutations in the LIS1 gene, also known as PAFAH1B1. This gene provides instructions for producing a protein called platelet-activating factor acetylhydrolase 1B1. Mutations in this gene disrupt the normal function of the protein, leading to lissencephaly. The LIS1 gene is located on chromosome 17.


Another gene associated with classical lissencephaly is the DCX gene, located on the X chromosome. Mutations in the DCX gene can cause a milder form of lissencephaly called subcortical band heterotopia. This condition primarily affects females.



2. Cobblestone Lissencephaly (Type II):


Cobblestone lissencephaly is caused by mutations in several genes, including the RELN, VLDLR, and OCLN genes. These genes play crucial roles in brain development and the migration of neurons. Mutations in these genes disrupt the normal formation of brain structures, resulting in the cobblestone appearance of the brain surface.



Other Causes:


In some cases, lissencephaly can be caused by chromosomal abnormalities, such as deletions or duplications of genetic material. Environmental factors, such as exposure to certain toxins or infections during pregnancy, may also contribute to the development of lissencephaly, although these cases are relatively rare.



In conclusion, lissencephaly is primarily caused by genetic mutations that disrupt normal brain development. The specific genes involved determine the type of lissencephaly and the severity of symptoms. Understanding the genetic causes of lissencephaly is crucial for diagnosis, genetic counseling, and potential future treatments.


Diseasemaps
1 answer

Lissencephaly causes

Lissencephaly life expectancy

What is the life expectancy of someone with Lissencephaly?

2 answers
Celebrities with Lissencephaly

Celebrities with Lissencephaly

1 answer
Is Lissencephaly hereditary?

Is Lissencephaly hereditary?

2 answers
Is Lissencephaly contagious?

Is Lissencephaly contagious?

2 answers
Natural treatment of Lissencephaly

Is there any natural treatment for Lissencephaly?

ICD9 and ICD10 codes of Lissencephaly

ICD10 code of Lissencephaly and ICD9 code

2 answers
Living with Lissencephaly

Living with Lissencephaly. How to live with Lissencephaly?

2 answers
Lissencephaly diet

Lissencephaly diet. Is there a diet which improves the quality of life of p...

1 answer

World map of Lissencephaly

Find people with Lissencephaly through the map. Connect with them and share experiences. Join the Lissencephaly community.

Stories of Lissencephaly

LISSENCEPHALY STORIES

Tell your story and help others

Tell my story

Lissencephaly forum

LISSENCEPHALY FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map