• genetic
  • Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, or dystrophia retinae dysacusis syndrome, is an extremely 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. (wikipedia.org)
  • disease
  • World-renowned authority Dr. Anne G. Osborn and her expert author team of Drs. Karen L. Salzman and Miral D. Jhaveri provide carefully updated information in a concise, bulleted format, keeping you current with new disease entities and syndromes, MR imaging techniques and applications, and pathology relevant to brain imaging. (indigo.ca)
  • PEX13
  • PEX13 brain mutants survive into the postnatal period, with the majority dying by 35 days, and with survival inversely related to litter size and weaning body weight. (biologists.org)
  • PEX13 brain mutants exhibit defects in reflex and motor development that correlate with impaired cerebellar fissure and cortical layer formation, granule cell migration and Purkinje cell layer development. (biologists.org)
  • PEX13 brain mutants show increased levels of MnSOD in cerebellum. (biologists.org)
  • chromosome
  • DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. (wikipedia.org)
  • DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.2. (wikipedia.org)
  • Salient features can be summarized using the mnemonic CATCH-22 to describe 22q11.2DS, with the 22 signifying the chromosomal abnormality is found on the 22nd chromosome, as below: Cardiac abnormality (commonly interrupted aortic arch, truncus arteriosus and tetralogy of Fallot) Abnormal facies Thymic aplasia Cleft palate Hypocalcemia/hypoparathyroidism Some experts support changing the name of both DiGeorge and velocardiofacial syndromes to CATCH-22. (wikipedia.org)
  • hypotonia
  • Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. (wikipedia.org)
  • impairment
  • The hearing impairment associated with Usher syndrome is better understood: damaged hair cells in the cochlea of the inner ear inhibit electrical impulses from reaching the brain. (wikipedia.org)
  • This syndrome is characterized by hearing loss and a gradual visual impairment. (wikipedia.org)
  • lipid
  • GP was used to monitor fluidity changes versus temperature and study the effects of Hg and Cd on the fluidity of different lipid models mimicking brain myelin (See Figure 1 for lipid structures). (atlasofscience.org)
  • symptoms
  • Usher syndrome is classed into three subtypes according to onset and severity of symptoms. (wikipedia.org)
  • The word syndrome means that multiple symptoms occur together, in this case, deafness and blindness. (wikipedia.org)
  • Consumer health resource center providing information on causes, symptoms, and treatment of various form of brain/CNS infections. (dmoztools.net)
  • trisomy
  • Trisomy 21, or Down syndrome, is the most common cause of intellectual disability. (renalandurologynews.com)
  • Feingold syndrome has several features similar to those of trisomy 21, including epicanthal folds, upslanting palpebral fissures, duodenal atresia, tracheoesophageal fistula, and intellectual disability. (renalandurologynews.com)
  • However, a typical feature of Feingold syndrome includes an absent middle phalanx of the second and fifth fingers and 2/3 toe syndactyly, and the overall facial gestalt of Feingold syndrome is different from trisomy 21. (renalandurologynews.com)
  • consistent
  • citation needed] The International 22q11.2 Foundation, through its Same Name Campaign, advocates for the consistent use of 22q11.2 deletion syndrome. (wikipedia.org)
  • newborn
  • 22q11.2 deletion syndrome (22q11.2DS) may be first spotted when an affected newborn has heart defects or convulsions from hypocalcemia due to malfunctioning parathyroid glands and low levels of parathyroid hormone (parathormone). (wikipedia.org)
  • tissue
  • α-oxidation removes the one carbon from carboxyl end and seen in brain tissue. (blogspot.com)
  • Nervonic acid is particularly abundant in the white matter of animal brains and in peripheral nervous tissue where nervonyl sphingolipids are enriched in the myelin sheath of nerve fibers. (wikipedia.org)
  • myelin
  • Myelin is critical for normal central nervous system functions and, in this regard, serves to insulate nerve fibers in the brain. (blogspot.com)
  • Even more striking is the fact that 32% of the glycerophospholipids in the adult human heart and 20% in brain and up to 70% of myelin sheath ethanolamine glycerophospholipids are plasmalogens. (wikipedia.org)
  • cerebellar
  • Additionally, lower muscle tone can be caused by Mikhail-Mikhail syndrome, which is characterized by muscular atrophy and cerebellar ataxia which is due to abnormalities in the ATXN1 gene. (wikipedia.org)
  • levels
  • We investigated the possible therapeutic effect of decreasing plasma levels of very-long-chain fatty acids (C26:0) with a synthetic oil containing trioleate and trielucate (Lorenzo's oil) as well as increasing docosahexaenoic acid (DHA) in red blood cells (RBC) with DHA ethyl ester in four patients with Zellweger syndrome. (biomedsearch.com)
  • DHA levels in the brains and livers of treated patients were higher than in untreated patients. (biomedsearch.com)
  • In addition, PBD-ZSD patients show deficient levels of plasmalogens, ether-phospholipids necessary for normal brain and lung function. (wikipedia.org)
  • Patients with multiple sclerosis have decreased levels of nervonic acid in the brain. (wikipedia.org)
  • health
  • Program's purpose is to increase awareness of the brain and its importance in the overall health and longevity of the human being. (dmoztools.net)
  • function
  • Zellweger syndrome can also affect the function of many other organ systems. (blogspot.com)
  • Nervonic acid can regulate the function of brain cell membranes and have a neuroprotective effect which is important to high-level training adults or athletes: it is an energy supplement. (wikipedia.org)
  • describe
  • Steven Pollard and colleagues describe glioma stem cell culture on adult mouse brain slices to model tumour-host interactions. (biologists.org)
  • appear
  • Recessive" means both parents must contribute an appropriate gene for the syndrome to appear, and "autosomal" means the gene is not carried on one of the sex chromosomes (X or Y), but rather on one of the 22 other pairs. (wikipedia.org)