Slight differences can help distinguish between two similar pediatric brain conditions
Slight differences in clinical features can help physicians distinguish between two rare but similar forms of autoimmune brain inflammation in children, a new study by UT Southwestern scientists suggests. The findings, published online in
Pediatric Neurology, could provide patients and their families with a better prognosis and the potential to target treatments specific to each condition in the future.
About half of all cases of encephalitis - a rare type of brain inflammation that affects about 1 of every 200,000 people in the U.S. each year - can be traced to an infection. For a portion of other cases in which the cause isn t initially clear, researchers have discovered a link with the patients own immune systems inappropriately targeting and damaging the brain.
Former FDA Commissioner Dr. Stephen Hahn is joining Blackfynn's board of directors. The Philadelphia-based therapeutics company combines data, technology and clinical expertise to develop therapies for Parkinson's disease and neurodegeneration. Hahn oversaw the regulatory process of the first COVID-19 vaccines.
In the journal
Nature Communications, scientists of the German Center for Neurodegenerative Diseases (DZNE) report new findings on the mechanisms of Niemann-Pick type C disease (NPC). This rare brain disorder mainly manifests in childhood and includes severe neurological and psychiatric symptoms. Researchers led by Dr. Sabina Tahirovic have now found evidence that already at an early stage, NPC is associated with neuroinflammation and that this condition is triggered by impaired intracellular lipid transport. In addition, they identified pathological features in the blood of affected individuals that in the future could assist to better monitor the course of the disease and response to therapy.
E-Mail
IMAGE: Under normal situation (image on the left), the closely packed choroid plexus restrains molecules in the blood stream from entering the CSF freely; the loss of SOX9 function (image on. view more
Credit: CUHK
The finding, recently published in the prestigious scientific journal
Proceedings of the National Academy of Sciences of the United States of America (PNAS), has provided the scientific community a novel understanding to the molecular regulatory mechanisms behind the function of the blood-CSF barrier and lays the groundwork for developing novel therapeutic strategies for preventing and treating neurodevelopmental disorders.
Dysfunction of blood-cerebrospinal fluid barrier is common in various neurological diseases
E-Mail
A study aiming to develop a new therapeutic technique could bring a revolution in our approach to treating rare, fatal Sanfilippo syndrome, a disorder that affects children as young as 2 years old and leads to childhood dementia and premature death. We are using a combination of gene therapy, stem cells and small molecules to restore metabolic defects in the patient s brain cells says Dr. Alexey Pshezhetsky, Professor at CHU Ste-Justine and lead GlycoNet Investigator on this project. First results in the mouse models of the disease are very encouraging.
Sanfilippo syndrome belongs to a group of rare diseases known as lysosomal storage disorders.