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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 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.
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.
Unusual responses to sensory stimuli are more common and prominent in individuals with autism, and sensory abnormalities are commonly recognized as diagnostic criteria in autism spectrum disorder (ASD), as reported in the DSM-5; although there is no good evidence that sensory symptoms differentiate autism from other developmental disorders. [84]
In most cases, people with MELAS inherit an altered mitochondrial gene from their mother. Less commonly, the disorder results from a new mutation in a mitochondrial gene and occurs in people with no family history of MELAS. [citation needed] Although first recognised and described in 1984 the condition occurred well before that date.
Research programme: autism and obesity therapeutics - Berand Neuropharmacology – histone deacetylase inhibitors [61] Research programme: brain development disorder therapeutics - Seaside Therapeutics (STX-110) – metabotropic glutamate mGlu 5 receptor antagonists and muscarinic acetylcholine M 1 receptor antagonists [62]
Disorders formerly considered distinct, but now diagnosed as autism spectrum disorder, include: Asperger syndrome – a previously diagnosed form of autism often applied to people with a higher IQ who can have a less difficult time communicating with others and understanding concepts or phrases than other individuals with more severe autism. As ...
Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. [1] Adenosine triphosphate ( ATP ), the chemical used to provide energy for the cell, cannot be produced sufficiently by oxidative phosphorylation when the mitochondrion is either damaged or missing necessary enzymes or transport proteins.