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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.
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]
The Seaver Autism Center for Research and Treatment at Icahn School of Medicine at Mount Sinai conducts research studies and provides care to children and adults with autism spectrum disorder (ASD). The Seaver Autism Center works to understand the biological causes of ASD and to develop treatments, as well as provide education and training ...
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]
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.
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.
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 ...