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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness , followed by peripheral vision loss and progressing to loss of central vision later in life.
The choroid plexus, or plica choroidea, is a plexus of cells that arises from the tela choroidea in each of the ventricles of the brain. [1] Regions of the choroid plexus produce and secrete most of the cerebrospinal fluid (CSF) of the central nervous system.
Choroideremia is caused by a loss-of-function mutation in the CHM gene which codes for Rab escort protein (REP-1). REP-1 and REP-2 (a REP-1 like protein) both help with the prenylation and transport of Rab proteins. [6] Rab27 has been found to preferentially depend on REP-1 for prenylation, which could be the underlying cause of choroideremia. [7]
Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
There’s one more unexpected but essential key to brain protection: a sense of purpose. “A very robust predictor of health outcomes is the sense that your life is meaningful,” Boyle says.
It is typically a branch of the internal carotid artery which supplies the choroid plexus of lateral ventricle and third ventricle as well as numerous structures of the brain. Occlusion of the artery can result in loss of sensation, loss of part of the visual field , and impaired movement, all on the opposite side of the body as the occlusion.
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The Brain Aneurysm Foundation reports that 1 in 50 people in the U.S. has an unruptured or intact aneurysm (an aneurysm in the brain that is not bleeding). However, the annual rate of an aneurysm ...