Is CIPA autosomal recessive?
Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN-IV) is an autosomal recessive disorder characterized by recurrent episodic fevers, anhidrosis (inability to sweat), absence of reaction to noxious (or painful) stimuli, self-mutilating behavior and …
What part of the brain does CIPA affect?
Studies of brain belonging to people with CIPA have shown abnormalities in the parts of the brain responsible for pain and temperature sensations such as absence of small neurons and fibers in the dorsal ganglia and dorsal roots that contains the cell bodies of sensory neurons that bring information from the periphery …
What gene or chromosome is affected by CIPA?
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare condition caused by mutation of the TrkA (NTRK1) gene on the 1q 21-22 chromosome,38 characterized by mental retardation; congenital analgesia that leads to self-mutilation, multiple scars, and fractures; and anhidrosis with repeated bouts of fever.
What are symptoms of CIPA?
Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV.
Can CIPA patients taste food?
Since the abilities of CIPA patients to perceive taste and smell were not basically impaired, despite their lower sensitivity to capsaicin, it was suggested that their dietary habits were only minimally affected, except for intake of pungent foods.
Who discovered CIPA?
Mardy was the ﬁrst to study CIPA in-depth. Published in 1999 in the American Journal of Genetics, Mardy identiﬁes the cause of CIPA, allowing for a better screening process in identifying individuals with this disease (4).
How is CIPA inherited?
CIPA is a hereditary disease. It is autosomal recessive, which means that any person who has CIPA must inherit the gene from both parents. 1 Typically, the parents of an affected child carry the gene but do not have the disease if they only inherited the gene from one parent.
What type of mutation causes CIPA?
Mutations in the NTRK1 gene cause CIPA. The NTRK1 gene provides instructions for making a receptor protein that attaches (binds) to another protein called NGFβ. The NTRK1 receptor is important for the survival of nerve cells (neurons ).
Who is Ashlyn Blocker?
Ashlyn Blocker is a young girl who has a rare genetic disease called CIP which stands for congenital insensitivity to pain. In other words, Ashlyn feels no pain. She has the inability to sense extreme temperatures of hot and cold.