UAB study shows missense mutations as key risk factor for severe symptoms of neurofibromatosis type 1
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  January 7, 2018  
  Neurology / Neuroscience  
  The latest neurology news from News Medical  
 UAB study shows missense mutations as key risk factor for severe symptoms of neurofibromatosis type 1UAB study shows missense mutations as key risk factor for severe symptoms of neurofibromatosis type 1
 
Research led by Ludwine Messiaen, Ph.D., professor of genetics at the University of Alabama at Birmingham, shows that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe symptoms of the genetic disease neurofibromatosis type 1.
 
 
 New AAN guideline: Exercising twice a week may improve memory in people with MCINew AAN guideline: Exercising twice a week may improve memory in people with MCI
 
Exercising twice a week may improve thinking ability and memory in people with mild cognitive impairment (MCI), according to a guideline released by the American Academy of Neurology.
 
   Study: Higher dose of anti-seizure drug during pregnancy may increase baby's risk of cleft lip, palateStudy: Higher dose of anti-seizure drug during pregnancy may increase baby's risk of cleft lip, palate
 
Taking a higher dose of topiramate during the first three months of pregnancy may increase a baby's risk of cleft lip or cleft palate more than when taking a lower dose, according to a study published in the December 27, 2017, online issue of Neurology, the medical journal of the American Academy of Neurology.
 
   Testing blood for caffeine levels may aid diagnosis of Parkinson's diseaseTesting blood for caffeine levels may aid diagnosis of Parkinson's disease
 
Testing the level of caffeine in the blood may provide a simple way to aid the diagnosis of Parkinson's disease, according to a study published in the January 3, 2018, online issue of Neurology®, the medical journal of the American Academy of Neurology.
 
   New understanding of how molecules regulate enzyme could lead to potential cancer targetsNew understanding of how molecules regulate enzyme could lead to potential cancer targets
 
New understandings of how molecules affect the activity of an enzyme could lead to potential targets for the treatment of cancers and neurodegenerative diseases.
 
 Study finds new brainstem changes in Parkinson’s disease
 
Study finds new brainstem changes in Parkinson’s diseaseA pioneering study has found that patients with Parkinson's disease have more errors in the mitochondrial DNA within the brainstem, leading to increased cell death in that area.
 
 
 Sleeping sickness actually caused by acceleration of biological clocks
 
Sleeping sickness actually caused by acceleration of biological clocksSleeping sickness could use a more encompassing moniker. An international study from the O'Donnell Brain Institute shows one of Africa's most lethal diseases is actually a circadian rhythm disorder caused by the acceleration of biological clocks controlling a range of vital functions besides sleep.
 
 
 UCLA study reveals positive effects of estrogen treatment in people with MS
 
UCLA study reveals positive effects of estrogen treatment in people with MSA study by UCLA researchers reveals the cellular basis for how the hormone estrogen protects against damage to the central nervous system in people with multiple sclerosis (MS).
 
 
 New, sensitive screening test may allow clinicians to accurately detect Pompe disease
 
New, sensitive screening test may allow clinicians to accurately detect Pompe diseaseResearchers identified a new, more sensitive screening test to recognize Pompe disease, a metabolic disorder affecting cellular processing of glycogen in numerous tissues of the body.
 
 
 Discovery of potential biomarker for Huntington's disease may help postpone disease onset
 
Discovery of potential biomarker for Huntington's disease may help postpone disease onsetA new discovery of a potential biomarker for Huntington's disease (HD) could mean a more effective way of evaluating the effectiveness of treatments for this neurological disease.
 
 
 Researchers discover way to enhance effectiveness and safety of sonogenetics
 
Researchers discover way to enhance effectiveness and safety of sonogeneticsResearchers at Duke University have discovered a way to enhance the effectiveness and safety of sonogenetics or ultrasonic modulation, emerging techniques that use sound waves to control the behavior of individual neurons or to promote tissue growth and wound healing in other cells.
 
 
 Powerful imaging technique sheds light on how the brain responds to vascular injury
 
Powerful imaging technique sheds light on how the brain responds to vascular injuryPericytes, a little-understood type of cell on the brain's blood vessels, grow into the empty space left when neighboring pericytes die, report researchers at the Medical University of South Carolina in a January 2nd, 2018 article in Cell Reports.
 
 
 New brain mapping technique reveals link between connectivity and IQ
 
New brain mapping technique reveals link between connectivity and IQAccording to a team of researchers at the University of Cambridge and the National Institutes of Health (NIH), USA, a novel and comparatively simple technique that maps the wiring of the brain has indicated a relationship between how well connected a person’s brain regions are and their intelligence.
 
 
 Advanced live cell imaging reveals brain’s response to blood vessel injury
 
Advanced live cell imaging reveals brain’s response to blood vessel injuryLive cell imaging and laser beam ablation reveals the damage response of pericytes surrounding blood vessels in the brain.
 
 
 'Thunder' protein activity may be associated with behavioral disorders like schizophrenia
 
'Thunder' protein activity may be associated with behavioral disorders like schizophreniaResearchers at Johns Hopkins Medicine report they have identified rare genetic variations in a protein called Thorase, which is responsible for breaking down receptors at the connections between neurons in the brain.