Search results
Results from the WOW.Com Content Network
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 regulates the production and composition of cerebrospinal fluid (CSF), that provides the protective buoyancy for the brain. [2] [10] CSF acts as a medium for the glymphatic filtration system that facilitates the removal of metabolic waste from the brain, and the exchange of biomolecules and xenobiotics into and out of the brain.
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 .
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]
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.
Get AOL Mail for FREE! Manage your email like never before with travel, photo & document views. Personalize your inbox with themes & tabs. You've Got Mail!
Typically, dementia is associated with classic symptoms like confusion and memory loss. But new research finds that there could be a less obvious risk factor out there: your cholesterol levels ...
The arteries of the base of the brain. Posterior inferior cerebellar artery labeled at bottom. The temporal pole of the cerebrum and a portion of the cerebellar hemisphere have been removed on the right side. Inferior aspect (viewed from below).