Ads
related to: mitochondrial disorder autism treatment plan request form 9465 freesignnow.com has been visited by 100K+ users in the past month
Search results
Results From The WOW.Com Content Network
The amygdala, cerebellum, and many other brain regions have been implicated in autism. [15]Unlike some brain disorders which have clear molecular hallmarks that can be observed in every affected individual, such as Alzheimer's disease or Parkinson's disease, autism does not have a unifying mechanism at the molecular, cellular, or systems level.
Robert K. Naviaux (born in 1956) is an American physician-scientist who specializes in mitochondrial medicine and complex chronic disorders. He discovered the cause of Alpers syndrome, [1] [2] and was part of the team that reported the first mitochondrial DNA (mtDNA) mutation to cause genetic forms of autism. [3]
The prevalence estimates of mitochondrial disease and dysfunction across studies ranging from about 5 to 80%. This may be, in part, due to the unclear distinction between mitochondrial disease and dysfunction. Mitochondrial diseases are difficult to diagnose and have become better known and detected.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a genetic neurodegenerative disease that causes dystonia, parkinsonism, and iron accumulation in the brain. [ 1 ] [ 2 ] It is caused by mutations to the gene C19orf12 , which has unknown function.
Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). [1]
Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. [2] It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction (POLIP syndrome). [3] The disease presents in childhood, but often goes unnoticed for decades.