What causes periventricular heterotopia?
In most cases, periventricular heterotopia is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton ) that gives structure to cells and allows them to change shape and move.
What is FLNA mutation?
The FLNA gene mutations that cause otopalatodigital syndrome type 1 all result in changes to the filamin A protein in a region that binds to actin (known as the CH2 domain). Many of these mutations change single amino acids in the filamin A protein.
How do you treat heterotopia?
Rarely, periventricular heterotopia is associated with a duplication of genetic material on chromosome 5. Treatment is generally focused on managing recurrent seizures with medications.
What is periventricular GREY matter heterotopia?
content highlights. Periventricular nodular heterotopia is a brain malformation of cortical development where there is abnormal clumping of grey matter (nerve cells) along the lining of the fluid-filled brain cavities called the ventricles.
Is heterotopia a genetic disorder?
X-linked periventricular heterotopia or FLNA-related periventricular nodular heterotopia is a genetic disorder in which nerve cells in the brain do not migrate properly during early fetal development (a neuronal migration disorder). It is characterized by the presence of clumps of neurons near the brain’s ventricles.
What is the meaning of heterotopic?
Heterotopic: In the wrong place, in an abnormal place, misplaced. From the Greek roots “hetero-” meaning “other” + “topos” meaning “place” = other place. For example, heterotopic bone formation is the formation of bone where it is not normally found, as in muscle.
What causes FLNA?
Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perinatal death.
What does FLNA stand for?
FLNA
| Acronym | Definition |
|---|---|
| FLNA | Filamin A |
| FLNA | Frito Lay North America |
| FLNA | Front de Libération National Alsacien (French: Alsatian independence movement) |
What causes a smooth brain?
ɛnˈsɛf. əl. i/, meaning “smooth brain”) is a set of rare brain disorders where the whole or parts of the surface of the brain appear smooth. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds (gyri) and grooves (sulci).
Is gray matter heterotopia genetic?
Subcortical Band Heterotopia SBH cortical malformations always have a genetic origin, and abnormalities in the DCX and LIS1 genes account for the majority of the SBH cases.
Is GREY matter heterotopia genetic?
Grey matter heterotopias are believed to be due interruption of the normal migration of neurons from the periventricular telencephalic germinal matrix to the cortex and may be due to either genetic abnormalities or infection/trauma.
What is neuronal Heterotopia?
Neuronal heterotopia refers to brain malformations resulting from deficits of neuronal migration. Individuals with heterotopias show a high incidence of neurological deficits, such as epilepsy.
What causes X linked periventricular heterotopia ( FLNA )?
X-linked periventricular heterotopia is caused by mutations in the FLNA gene and is inherited in an X-linked dominant manner. [3] [4] Treatment depends on the symptoms in each person and typically includes anti-seizure medications. [3] [5]
What is the meaning of periventricular nodular heterotopia?
▼ Description. Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles.
What causes periventricular heterotopia on chromosome 5?
Some cases are caused by changes ( mutations) in the FLNA gene and are inherited in an X-linked dominant manner. Other cases are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. Rarely, periventricular heterotopia is associated with a duplication of genetic material on chromosome 5.
What is the treatment for X linked periventricular heterotopia?
X-linked periventricular heterotopia is caused by mutations in the FLNA gene and is inherited in an X-linked dominant manner. Treatment depends on the symptoms in each person and typically includes anti-seizure medications.