Stories about: Brain

Patients’ brain tissue unlocks the cellular hideout of Sturge-Weber’s gene mutation

A diagram of the skull and brain showing the leptomeninges, which is affected by Sturge-Weber syndrome
Sturge-Weber syndrome causes capillary malformations in the brain. They occur in the brain’s leptomeninges, which comprise the arachnoid mater and pia mater.

A person born with a port-wine birthmark on his or her face and eyelid(s) has an 8 to 15 percent chance of being diagnosed with Sturge-Weber syndrome. The rare disorder causes malformations in certain regions of the body’s capillaries (small blood vessels). Port-wine birthmarks appear on areas of the face affected by these capillary malformations.

Aside from the visible symptoms of Sturge-Weber, there are also some more subtle and worrisome ones. Sturge-Weber syndrome can be detected by magnetic resonance imaging (MRI). Such images can reveal a telltale series of malformed capillaries in regions of the brain. Brain capillary malformations can have potentially devastating neurological consequences, including epileptic seizures.

Frustratingly, since doctors first described Sturge-Weber syndrome over 100 years ago, the relationship between brain capillary malformations and seizures has remained somewhat unexplained. In 2013, a Johns Hopkins University team found a GNAQ R183Q gene mutation in about 90 percent of sampled Sturge-Weber patients. However, the mutation’s effect on particular cells and its relationship to seizures still remained unknown.

But recently, some new light has been shed on the mystery. At Boston Children’s Hospital, Sturge-Weber patients donated their brain tissue to research after it was removed during a drastic surgery to treat severe epilepsy. An analysis of their tissue, funded by Boston Children’s Translational Neuroscience Center (TNC), has revealed the cellular location of the Sturge-Weber mutation. The discovery brings new hope of finding ways to improve the lives of those with the disorder.

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Human brain evolution holds clues about autism… and vice versa

human brain evolution autism Human Accelerated Regions
Humans evolved to become more social and cognitively advanced, thanks to genetic changes in regions such as HARs — the child with autism spectrum disorder (ASD) being the exception. While mutations in protein-coding genes continue to be explored in ASD (indicated by the red ribbon of RNA), the scientists at far left are suggesting that mutations in regulatory elements (the histones , in green, and their modifications shown in yellow) may be important in both ASD and human evolution. (Illustration: Kenneth Xavier Probst)

Starting in 2006, comparative genomic studies have identified small regions of the human genome known as Human Accelerated Regions, or HARs, that diverged relatively rapidly from those of chimpanzees — our closest living relatives — during human evolution.

Our genomes contain about 2,700 HAR sequences. And as reported today in Cell, these sequences are often active in the brain and contain a variety of mutations implicated in autism and other neurodevelopmental disorders.

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Science seen: Mapping touch perception in cerebral palsy

sensory brain mapping in cerebral palsy

Cerebral palsy (CP) is the most common motor disability of childhood. The brain injury causing CP disrupts touch perception, a key component of motor function. In this brain image from a child with CP (click to enlarge), the blue lines show nerve fibers going to the sensory cortex. The colored cubes at the top represent the parts of the sensory cortex receiving touch signals from the thumb (red cube), middle finger (blue) and little finger (green). An injury in the right side of the brain (dark area) has reduced the number of nerve fibers on that side, reducing touch sensation in the left hand and resulting in weakness.

Christos Papadelis, PhD, of Boston Children’s Hospital’s Division of Newborn Medicine hopes to use such sensory mapping information to develop better rehabilitation therapies. P. Ellen Grant, MD, director of the Fetal-Neonatal Neuroimaging and Developmental Science Center, Brian Snyder, MD, of the Cerebral Palsy Program and research assistant Madelyn Rubenstein are part of the team.

 

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Fruit flies’ love lives could clarify brain cells’ role in motivation

If you have children present, you might want to click out of this post. But if you want to understand motivation, you’ll want to know about the sexual behavior of fruit flies.

In the brain, motivational states are nature’s way of matching our behaviors to our needs and priorities. But motivation can go awry, and dysfunction of the brain’s motivation machinery may well underlie addiction and mood disorders, says Michael Crickmore, PhD, a researcher in the F.M. Kirby Neurobiology Center. “Basically, every behavior or mood disorder is a disorder of motivation,” he says.

It’s already known that brain cells that communicate via the chemical dopamine are important in motivation—and are also implicated in ADHD, depression, schizophrenia and addiction. But what exactly are these cells up to, and who are they talking to? That’s where fruit flies come in.

“We study motivation in a simple system that we can bash very hard,” says Crickmore.

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Delivering a baby MEG

baby MEG
This array of sensors surrounding a baby’s head will give researchers and eventually clinicians a high-resolution image of neural activity.

Imagine you’re a clinician or researcher and you want to find the source of a newborn’s seizures. Imagine being able to record, in real time, the neural activity in his brain and to overlay that information directly onto an MRI scan of his brain. When an abnormal electrical discharge triggered a seizure, you’d be able to see exactly where in the brain it originated.

For years, that kind of thinking has been the domain of dreams. Little is known about infant brains, largely because sophisticated neuroimaging technology simply hasn’t been designed with infants in mind. Boston Children’s Hospital’s Ellen Grant, MD, and Yoshio Okada, PhD, are debuting a new magnetoencephalography (MEG) system designed to turn those dreams into reality.

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Does musical training help kids do better in school?

music and executive functionMy daughter just surprised me by signing up for fifth grade band starting this fall. To my further delight, some new research—using both cognitive testing and brain imaging—suggests that as she practices her clarinet, she also may be honing her executive functions.

Like a CEO who’s on top of her game, executive functions—separate from IQ—are those high-level brain functions that enable us to quickly process and retain information, curb impulsive behaviors, plan, make good choices, solve problems and adjust to changing cognitive demands. While it’s already clear that musical training relates to cognitive abilities, few previous studies have looked at its effects on executive functions specifically.

The study, appearing this week in PLOS ONE, compared children with and without regular musical training, as well as adults. To the researchers’ knowledge, it’s the first such study to use functional MRI (fMRI) of brain areas associated with executive function and to adjust for socioeconomic factors.

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Anticipating autism through functional neuroimaging

Mila-cap-ball-2014-05-08 12.24.14Is 9-month-old Mila Goshgarian at risk for developing autism spectrum disorder (ASD)? Her 4-year-old twin brothers are both on the spectrum, so statistically her chances are at least 20 percent.

Her mother, Tonia, brought her into Boston Children’s Hospital for the Infant Sibling Project, which works with babies who are at increased risk of developing ASD in hopes of discovering early brain biomarkers for the disorder. This is Mila’s fifth visit; she’s been coming to the Labs of Cognitive Neuroscience for testing since the age of 3 months.

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Autism and Asperger’s are different… at least on EEG

Histogram differentiating EEGs of children with Asperger's and Autism
Asperger’s syndrome vs. autism spectrum disorders:
This histogram separates children with Asperger’s (in red) from those with autism spectrum disorders (green) based on EEG coherence variables. Although there is overlap with high-functioning autism, the Asperger’s children clearly form a distinct group. (Courtesy BMC Medicine)

Is it Asperger’s syndrome or is it autism? Since there are no objective diagnostic measures, the diagnosis is often rather squishy, based on how individual clinicians interpret a child’s behavior. According to the Diagnostic and Statistical Manual, fourth edition (DSM-IV), early problems with language development are an indicator of autism; if there are behavioral symptoms but no early language problems, the child has Asperger’s. However, if the diagnosis is made late, parents’ recall of early language development may be fuzzy.

Under the new DSM-V, published in May, Asperger’s is included under the general “autism spectrum disorders (ASD)” umbrella. This has raised concerns among families who feel their children with Asperger’s have unique needs that won’t be met in classroom programs designed for autism.

Frank Duffy, MD, a neurologist at Boston Children’s Hospital, believes it’s possible to objectively differentiate Asperger’s from ASDs using a new wrinkle on an old technology. Originally trained as an engineer, Duffy is expert at interpreting electroencephalography (EEG) signals—the wiggly lines that represent electrical activity in the brain.

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Dodging the long-term cognitive effects of early-life seizures

Seizures seem to strengthen and “lock in” synapses too soon, leaving no room for development. (Image: Ice synapses, Joe Flintham/Flickr)

It’s well known that babies who have seizures soon after birth have roughly a 50-50 chance of developing long-term intellectual and memory deficits and cognitive disorders like autism. But until now, it wasn’t understood why these deficits occur, much less how to prevent them from happening.

In the December 14 Journal of Neuroscience, researchers at Children’s Hospital Boston, led by neurologist-neuroscientist Frances Jensen, detail in a rat model how early-life seizures affect brain development at the cellular and molecular level. But more to the point, they show that it might be possible to ward off these effects with drug treatment soon after the seizure – using a drug called NBQX or similar drugs that are already approved by the FDA.

Jenson was particularly interested in what seizures do to synapses, the connections between neurons that are rapidly developing in the infant brain.

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A view of autism: altered brain pathways, disordered white matter

A growing body of evidence from genetic and cell studies indicates that autism spectrum disorders (ASDs) result from abnormalities in how neurons connect to each other to establish brain circuitry. Striking MRI images taken at Children’s Hospital Boston, published in the January Academic Radiology, now strengthen this case visually.

Children’s neurologist-neuroscientist Mustafa Sahin, Simon Warfield, director of the hospital’s Computational Radiology Laboratory, and Jurriaan Peters compared brain organization in 29 healthy subjects with that in 40 patients with tuberous sclerosis, a rare genetic syndrome often associated with cognitive and behavioral deficits, including ASDs about 50 percent of the time. “Patients with tuberous sclerosis can be diagnosed at birth or potentially before birth, because of cardiac tumors that are visible on ultrasound, giving us the opportunity to understand the circuitry of the brain at an early age,” explains Sahin.

The panels above (click to enlarge) are advanced MRI images

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