ANGELINA CASK NEUROLOGICAL RESEARCH FOUNDATION
Angelina Cask Neurological Research Foundation ('ACNRF') was founded as a Not For Profit Organisation by Giovi and Charles and their family on 18 August 2020. Giovi and Charles have a young daughter Angelina, who was diagnosed with CASK during 2019.
Giovi was 34 weeks pregnant, when an initial diagnosis of Agenesis of the Corpus Callosum (ACC) was MADE during a routine ultrasound. In simple terms, Angelina is missing the middle area of her brain which connects the two cerebral hemispheres and is the control centre for higher neural functions including our motor, sensory and cognitive functions. This impacts Angelina’s ability to walk, talk, eat and control her emotional needs. The probable outcome provided by most of the members of the medical team, was that Angelina was unlikely to have any quality of life and she would be unable to walk, communicate and would be severely delayed. Giovi and Charles were given the option to terminate the pregnancy but chose to give Angelina a fighting chance.
Angelina also suffers from Microcephaly (small brain) which refers to a condition in which a child’s head is smaller than the typical range for the child’s age and gender.
Following extensive genetic testing, it was found that Angelina’s condition arises from a calcium/calmodulin-dependent serine protein kinase (CASK) gene mutation that has only recently been discovered and is a rare condition.
CASK is a protein present in all cells of the body. The CASK protein is coded for by the CASK gene. The CASK gene is on the X chromosome, one of the two sex chromosomes. Girls have two X chromosomes, and boys only have one X chromosome; this means that there are two versions of the CASK gene in girls but only one in boys. Although girls have two versions of the CASK gene, only one gene is active in each cell of the body because one X chromosome in each cell is randomly inactivated.
When a CASK gene has a mutation that causes the CASK protein to malfunction, the effects will be different in girls and boys. In boys, a CASK gene mutation will affect the CASK protein in all cells of the body, but in girls, only 50% of the cells will have the dysfunctional protein and the other 50% of the cells will have normal CASK. Mutations in CASK that are minor (do not affect the protein’s function much) are unlikely to dramatically affect girls. These same minor mutations in boys can cause intellectual deficits. More dramatic mutations that cause the CASK protein to not function at all lead to a life-threatening and devastating condition in boys, but in girls, these mutations cause a disorder called MICPCH (microcephaly with pontine and cerebellar hypoplasia). These girls typically have a smaller head (and brain) compared to other girls their age, and they also have intellectual and motor deficits. Sometimes girls with these mutations will also have problems with vision and hearing and around 40% will have seizures.
Most CASK mutations are not inherited. CASK mutations happen randomly either in the eggs of the mother or during the process of conception. There are no known causes of mutations in CASK, and there are no known activities or risk factors that make it more likely for the CASK gene to be mutated.
CASK plays a very important role in the brain, and it is easier to notice the loss of CASK as a child becomes older. In girls, a diagnosis of CASK mutation is often missed at birth, and medical problems are only noticed at 3 or 4 months of age. This delay in symptoms provides some hope that, through research, therapies might be developed that could be used in this early window to reduce the impact of CASK mutation.
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Angelina Cask Neurological Research Foundation Ltd (A.B.N. 11643569153) is a registered Australian Charity (It is registered with the Australian Charities and Not for Profit Commission - which is an Australian Government body)
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