Archive for neurology
Facial weakness: A dark matter detective story
Elizabeth Engle, MD, has devoted her career to finding genetic and developmental causes for disorders of eye, eyelid, and facial movement. From common conditions like strabismus to very rare disorders, these conditions can impact a person’s appearance and impair social communication, making it hard to shift one’s eyes up, down, or sideways or adjust facial expressions. Each ... Read More about Facial weakness: A dark matter detective story
Another angle on Alzheimer’s: CSF, proteomics, and metabolic enzymes
Currently there are no objective, easily assessed diagnostic markers for Alzheimer’s disease, and no good therapeutic options. Taking an agnostic approach, proteomics expert Hanno Steen, PhD, and neurobiologist Judith Steen, PhD, who share a lab at Boston Children’s Hospital, teamed up to analyze proteomics data from the cerebrospinal fluid (CSF) that bathes the brain, combining ... Read More about Another angle on Alzheimer’s: CSF, proteomics, and metabolic enzymes
Rethinking cerebral arachnoid cysts through genomics
Cerebral arachnoid cysts are the most common mass-occupying brain lesion in humans. Some cause no noticeable symptoms and may just be incidental findings. Others are quite severe, causing hydrocephalus and potentially nerve damage; these clearly require surgery to drain the cyst fluid and relieve pressure on the brain. But a middle ground sits between these ... Read More about Rethinking cerebral arachnoid cysts through genomics
Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
As a newborn, Sam Hoffman never cried or made a sound. His mother, Carolyn, often had to wake him up to feed him. He missed many of his infant milestones. At one visit, his pediatrician tapped his leg and couldn’t get a reflex. A urine test found extremely high levels of 4-hydrobutyric acid or GHB ... Read More about Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
A promising target for ALS and other neurodegenerative disorders: Curbing inflammation
When cells recognize a danger, such as an infection, they activate the innate immune system. Sentinel molecules sound an alarm, recruiting immune cells to take down the threat. In 2016, Judy Lieberman, MD, PhD and her colleagues at Boston Children’s Hospital showed that a protein called gasdermin D initiates a final, decisive step: pyroptosis, a ... Read More about A promising target for ALS and other neurodegenerative disorders: Curbing inflammation
Treating brain ‘hotspots’ and networks to address autism, aggression, and more
What if doctors could break down conditions like autism into their key symptoms, map these symptoms to “hotspots” in the brain, and then treat those areas directly with brain stimulation? If it bears out, such an approach could turn the care of neurologic and developmental disorders on its head, focusing on symptoms that are shared ... Read More about Treating brain ‘hotspots’ and networks to address autism, aggression, and more
Cracking the code on Kleefstra syndrome: It takes a community
Paul Terry is a staunch advocate for people with rare diseases — but researchers were only able to put a name to his condition five years ago. It was an answer he and his family had long sought. When Paul was a baby, his parents saw that he wasn’t hitting all his milestones. Their pediatrician ... Read More about Cracking the code on Kleefstra syndrome: It takes a community
Research offers guidance on genetic testing for cerebral palsy
A recent meta-analysis confirms what a small study at Boston Children’s found last year: About 1 in 4 children with cerebral palsy (CP) who had DNA testing had genetic variants likely to have caused or contributed to their condition. With the new data, the researchers have expanded the traditional view of the condition and offer ... Read More about Research offers guidance on genetic testing for cerebral palsy
A path forward for genetic testing in unexplained epilepsy
The number of genes implicated in epilepsy has grown rapidly in the past decade. This raises questions about what tests to offer to people with unexplained epilepsy and whether those tests would yield actionable information. Now, practice guidelines developed by genetic counselors at Boston Children’s Hospital offer a way forward. In the first systematic evidence ... Read More about A path forward for genetic testing in unexplained epilepsy
New insight into dietary approaches for epilepsy
Fasting has been believed since ancient times to curb seizures in epilepsy, and small patient studies in the early 1900s have revived the idea. But the reasons have remained mysterious. New research from Boston Children’s helps explain how fasting affects the brain at the molecular level. The findings could lead the way to new approaches ... Read More about New insight into dietary approaches for epilepsy