What is CASK gene mutation?
CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus.
What does the CASK gene do?
The CASK gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control the activity (expression) of other genes that are involved in brain development.
What is Pontocerebellar hypoplasia?
Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term “pontocerebellar” refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder.
Can cerebellar hypoplasia be cured?
Since the condition is caused by a lack of development of the brain, there is no treatment.
Is Pontocerebellar hypoplasia life expectancy?
In most cases, the disease is uniformly fatal early in life. Life span has ranged from death in the perinatal period to about 20-25 years of age. Only a few individuals-usually patients with PCH type 2-have survived to the second and third decades of life.
Is Pontocerebellar hypoplasia curable?
There is no known cure for PCH.
What ABV is cask strength?
between 60 to 65 percent ABV
Cask-strength whiskey is bottled from the barrel, completely unadulterated (meaning it hasn’t been diluted with water) and is generally between 60 to 65 percent ABV.
Which is bigger cask or barrel?
Rather, a “barrel” is a specific term of art in the beverage industry referring to a 50–53 gallon (180–200 liter) cask, often made of white oak.
Is cerebellar hypoplasia like cerebral palsy?
What is Cerebellar Hypoplasia? Cerebellar Hypoplasia (cer·e·bel·lar hy·po·pla·sia) is a disorder found in cats and dogs which causes jerky movements, tremors, and generally uncoordinated motion, just like ataxic cerebral palsy in humans.
Does cerebellar hypoplasia worsen?
Cerebellar hypoplasia is apparent at birth and can appear to worsen with age, although in reality,the condition does not actually improve or get worse with time. There is no known cure or proven treatment for this neurological condition.
Is Pontocerebellar hypoplasia a disability?
Although the clinical features vary widely, pontocerebellar hypoplasias are usually associated with profound intellectual disability and delayed or absent psychomotor milestones. In most cases, the disease is uniformly fatal early in life.
What is a cask related disorder?
Summary Summary. CASK-related disorders are a group of genetic disorders that affect brain development. The two main related disorders include microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability (XL-ID) with or without nystagmus. Males with these disorders usually have more severe symptoms than females.
How do mutations in the CASK gene affect the brain?
Mutations in the CASK gene are thought to affect the role of the CASK protein in brain development and function, resulting in the associated signs and symptoms.
What is the CASK gene?
Learn more The CASK gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control the activity (expression) of other genes that are involved in brain development.
Can cask-related intellectual disability go unrecognized?
This form of the disorder may go unrecognized in mildly affected females. CASK -related intellectual disability, as its name suggests, is caused by mutations in the CASK gene. This gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK).