From The Life and Death of a Neuron, National Institute of Neurological Disorders and Stroke.

Until recently, most neuroscientists thought we were born with all the neurons we were ever going to have. As children we might produce some new neurons to help build the pathways—called neural circuits—that act as information highways between different areas of the brain. But scientists believed that once a neural circuit was in place, adding any new neurons would disrupt the flow of information and disable the brain’s communication system.

In 1952, scientist Joseph Altman challenged this belief when he saw evidence of neurogenesis (the birth of neurons) in a region of the adult rat brain called the hippocampus. He later reported that newborn neurons migrated from their birthplace in the hippocampus to other parts of the brain.

These discoveries about neurogenesis in the adult brain were surprising to other researchers who didn’t think they could be true in humans. But in the early 1980’s, a scientist trying to understand how birds learn to sing suggested that neuroscientists look again at neurgenesis in the adult brain and begin to see how it might make sense. In a series of experiments, Fernando Nottebohm and his research team showed that the numbers of neurons in the forebrains of male canaries dramatically increased during the mating season. This was the same time in which the birds had to learn new songs to attract females.

Why did these bird brains add neurons at such a critical time in learning? Nottebohm believed it was because fresh neurons helped store new song patterns within the neural circuits of the forebrain, the area of the brain that controls complex behaviors. These new neurons made learning possible. If birds made new neurons to help them remember and learn, Nottenohm thought the brains of mammals might too.

Elizabeth Gould later found evidence of newborn neurons in a distinct area of the brain in monkeys, and Fred Gage and Peter Eriksson showed that the adult human brain produced new neurons in a similar area.

For some neuroscientists, neurogenesis in the adult brain is still an unproven theory. But others think the evidence offers intriguing possibilities about the role of adult-generated neurons in learning and memory.

The central nervous system (which includes the brain and spinal cord) is made up of two basic types of cells: neurons and glia. Glia outnumber neurons by a substantial amount—some scientists have estimated it to be as large as nine to one—but in spite of their smaller numbers, neurons are the key players in the brain.

Neurons are information messengers. They use electrical impulses and chemical signals to transmit information between different areas of the brain, and between the brain and the rest of the nervous system. Everything we think and feel and do would be impossible without the work of neurons and their support cells, the glial cells call astrocytes and oligodendrocytes.

Neurons have three basic parts: a cell body and two extensions called an axon and a dendrite. Within the cell body is the nucleus which controls the cell’s activities and contains the cell’s genetic material. The axon looks like a long tail and tranmits messages from the cell. Dendrites look like the branches of a tree and receive messages for the cell. Neurons communicate with each other by sending chemicals, called neurotransmitters, across a tiny space, called a synapse, between the axons and dendrites of adjacent neurons.

There are three classes of neurons:

Sensory neurons carry information from the sense organs (such as the eyes and ears) to the brain.

Motor neurons have long axons and carry information from the central nervous system to the muscles and glands of the body.

Interneurons have short axons and communicate only within their immediate region.

Scientists think that neurons are the most diverse kind of cell in the body. Within these three classes of neurons are hundreds of different types, each with specific message-carrying abilities.

How these neurons communicate with each other by making connections is what makes each of us unique in how we think, and feel, and act.

Neurons are born in areas of the brain that are rich in concentrations of neural precursor cells (also called neural stem cells). These cells have the potential to generate most, if not all, of the different types of neurons and glia found in the brain.

Neuroscientists have observed how neural precursor cells behave in the laboratory. Although this may not be exactly how these cells behave when they are in the brain, it gives us information about how they could be behaving when they are in the brain’s environment.

The science of stem cells is still very new, and could change with additional discoveries, but researchers have learned enough to be able to describe how neural stem cells generate the other cells of the brain. They call it a stem cell’s lineage and it is similar in principle to a family tree.

Neural stem cells increase by dividing in two and producing either two new stem cells, or two early progenitor cells, or one of each.

When a stem cell divides to produce another stem cell, It is said to self-renew. This new cell has the potential to make more stem cells.

When a stem cell divides to produce an early progenitor cell, it is said to differentiate. Differentiation means that the new cell is more specialized in form and function. An early progenitor cell does not have the potential of a stem cell ti make many different types of cells. It can only make cells in its particular lineage.

Early progenitor cells can self-renew or go in either of two ways. One type will give ruse to astrocytes. The other type will ultimately produce neurons or oliogodendrocytes.

Once a neuron is born, it has to travel to the place in the brain where it will do its work. Some neurons migrate by following the long fibers of cells called radial glia. These fibers extend from the inner layers to the outer layers of the brain. Neurons glide along the fibers until they reach their destination. Neurons also travel by using chemical signals. Scientists have found special molecules on the surface of neurons—adhesion molecules—that bind with similar molecules on nearby glial cells or nerve axons. These chemical signals guide the neurons to its final location.

Not all neurons are successful in their journey. Scientists think that only a third reach their destination. The rest either never differentiate, or die and disappear at some point during the two to three week phase of migration.

Some neurons survive the trip, but wind up where they shouldn’t be. Mutations in the genes that control migration create areas of misplaced or oddly formed neurons that can cause disorders such as childhood epilepsy or mental retardation. Some researchers suspect that schizophrenia and the learning disorder dyslexia are partly the result of misguided neurons.

Scientists hope that by understanding more about the life and death of neurons they can develop new treatments, and possibly even curs, for brain diseases and disorders that affect the lives of millions of Americans.

The most current research suggests that neural stem cells can generate many, if not all, of the different types of neurons found in the brain and nervous system. Learning how to manipulate these stem cells in the laboratory into specific types of neurons could produce a fresh supply of brain cells to replace those that have died or been damaged.

Therapies could also be created to take advantage of growth factors and other signaling mechanisms inside the brain that tell precursor cells to make new neurons. This would make it possible to repair, reshape and renew the brain from within.

My 9 year old daughter has been a mystery to 2 of the previous geneticists she has seen in the past. They thought she had Prader-Willi, but the tests came back negative. They really didn't pursue it.

We just saw a new geneticist a week ago since finding out 3 weeks ago that she has Hypertrophic Cardiomyopathy [HCM]. (We are seeing a specialist at Boston Children's Hospital on May 7th.) This geneticist was not only excited to figure Jessica out, but is certain that she has Coffin-Lowry Syndrome. She does have the tapered fingers, the downslant to the eyes, she is mildly retarded, and now the heart issue. She will run a test to look at a certain gene, I guess, after she presents Jessica's case file to some other geneticists in a video conference in mid-May.

She gave me the website for your foundation, and I happened to stumble upon the Yahoo group.

As worried as I am about her heart and her symptoms that she is having, I am almost happy that they have a name for what she has. It will help with a prognosis, with services, etc. I am looking forward to the testing for confirmation on this syndrome.

I'm so worried about Jessica b/c she can't play and run around like most kids b/c she gets so winded and tires so easily. She also has PVC's [premature ventricular contractions] that cause her heart to flutter a LOT. I just want to know every single little thing about the HCM that I can get my hands on.

Linda Young

Worcester, MA

Andrew is now 15 and a freshman in high school. He is the most physically 'needy' in his class of 10. He has been with most of the children for many years. Andrew does have a 1-1 aid at school, which is ok since it's all new staff and they are all learning.

Currently Andrew now has a 'stander' and a bike at school. I had to have the PT come to his IEP and recommend that he use these both every day. The staff felt it was "too cold" to take him in the closed hallway to ride! Needless to say he rides every day now. Also we recently got Andrew a gait trainer! I almost cried, I was so happy he would be able to have it, I tried to get the PT to approve him for it for over a year! Andrew is so happy when he is in it because mommy isn't holding on everywhere he wants to go. He likes to run with the other kids. The PT said it would be too confining for Andrew, but it has actually given him freedom to be more like our other children and neighbors. I'm just a little happy!!

Also Andrew is currently on 2 meds for his seizures, Depakote and Lamictal. He currently is taking 375mg dep 3 x/day and 75mg lamictal 2x/day. We just increased the Lamictal over the last 2 months and at first he was improving on the drop attacks, but now that it's been a couple weeks on a constant level they are returning to the 'normal' activity as was before.(3-5 a day) This has always been the case with this med.

After talking to the nurse practitioner she suggested switching to a new med the Dr told us about. Also we had discussed switching to the ketogenic diet. My husband and I were trying to keep Andrews meds limited and now are looking into the diet as an alternative. I was wondering if anyone had any experience with this diet and if so what was the experience/outcome? I told the NP I would have to do some research on this before deciding, as Andrew would have to be in the hospital for 4 days and not eat for that time, then start on the keto plan. She told me he has to eat only from the meal plans and not deviate at all or it would not work. So far all I have seen in my search is how restrictive it is and benefits (no seizures) and side effects. Anyway, we also have a stander at home to use.

Andrew also wears a helmet and braces and cannot walk well without them. The current braces are just shoe inserts which are ok, but the new ones will be in anytime. He is getting the full braces that come up to his upper calf. The only problem he has had with these is that his big toe and the ball area bruise rather ugly when strapped in. We had to eliminate the toe strap, but it makes his foot not set correctly in the brace. Of course the PT thinks my suggestions are useless, so I will have to see what I can do for him once the braces come home.

The reason Andrew is more needy and now has so much equipment is his growing dependence of his wheelchair. He is in it so much and then sitting all day in school has harmed his ability to be mobile. Andrew is made to do things for himself at home and he happily complies. He crawls all the time and likes to help everyone with chores and 'homework'. When the other kids are doing homework Andrew like to have his own papers and pencils to 'write'. He enjoys helping cook by dumping in pre-measured ingredients and loves washing dishes! I think the only bother is his impatience!

We don't have to many behavior issues with Andrew, mostly because he desperately loathes time out! He is repetitive in saying names just to irritate the kids, and always bugs the cats. The older cat is like his best friend, always acting like Andrew is bugging him but not moving away. Other than that Andrew has very few friends outside of school. He has friends of his siblings and a couple of preschool age children he plays with.

Well it's nice to be a part of this group now and I hope every one is doing well.

Kathy Davis

Turlock, CA

Kathy, my 5 year old son is on the Ketogenic diet. He is not CLS but had frequent seizures.. He has been on it since last July. I have been told the benefits are greater in younger children. My son went seizure free for 3 months and then started having seizures again but he is still definitely better than before the diet. It is very restrictive.

Martha Fortune

Sebring, OH

Aaron Le Blanc, Age 15

Aaron turned 15 January 1st of this year. He goes to the Lincoln Center in Wyandotte, MI which is only 10 minutes from our home. He has been there for 1-1/2 years and is doing great. Although he has no reading or writing skills to speak of, he’s a worker. He enjoys class time by working on the basics, numbers, letters and writing. Storytime and speech are his favorites, and time on the computer has his full attention. He uses P.E. to get rid of his excess energy.

Mrs. Rose, his teacher, has a hard time keeping him busy so on Wednesday he has a job. He spends 1 hour at a local salon doing various odd jobs. He uses a story board for basic communication since his vocabulary has come to a standstill. He seems to be on quickly to this and it has been a life saver. Schedules and routine are a must with Aaron during the week.

Weekends are his own. He spends his time helping with household duties, puzzles, coloring, and enjoys an occasional movie. Once a month we go to get my great nieces, who are 1-1/2 and 3-1/2. This is his life’s work. He dotes over them like nothing I’ve ever seen. It is hard no Aaron when we take them home, but after a weekend with the 3 of them, I need the rest.

At 5’1” and 11– lbs, Aaron can be difficult to handle. Time out is mandatory and usually difficult to enforce. Puberty has made life with Aaron a learning experience at best. Because of his size he feels entitled to all that comes with it. Only patience and prayer take us through unstructured times, but this is his time for growth and independence.

I am very proud of Aaron. He has shown great strength and understanding during some very difficult times. Jessica is going to college in Texas, and due to the slumping economy I am unemployed. Aaron has become more responsible about his chores and seems to understand that he is no longer a baby. He has shown everyone that he is very self reliant and demands a sense of independence. He has begun cooking, which is very important to him, although he tolerates help with minimal opposition.

My family is amazed at the progress Aaron has made, since at birth doctors held little if any hope for Aaron. He has surpassed many goals which he was never expected to achieve.

This young man has been a joy and inspiration to all who know him.

God bless all.

Carol LeBlanc

Riverview, MI

Hello:

My name is Jerrold Bernstein and I'm writing in regards to my 19 year old son, Brett A. Bernstein. Brett was diagnosed with Coffin-Lowry in 1999 by his genetics doctor, Dr. Murry Feingold of Waltham and Salem Massachusetts. We do not know a lot about Coffin-Lowry but we have dealt with this the best we can. We have three younger daughters two have Coffin-Lowry also but not as severe as Brett.

My wife Theresa and I have run into a situation I am hoping that you can help us with. On Saturday, March 29th of this year Brett fell outside and hit his head hard on concrete. He hit hard on his left side. He was rushed to ER at Celebration Health here in Florida and had a battery of tests. He was admitted and spent a week there. After a week he was transferred to a rehabilitation center, Tandem Healthcare of Kissimmee where he remains today. He does not have the use of his right arm and hand he can not walk on his own and his muscle tone severely lowered. Because of his Coffin-Lowry his communication skills are on the level of a few individual words so talking with him has been a challenge and to find out how he feels. As far as the accident goes. we will be trying to find out by a neurologist on May 9th if a condition caused him to fall and make him this way or is he the way he is now DUE to the accident. We are hoping to find out answers to this.

Due to insurance regulations plus the desire of Brett to get home we will be in the need of a lot of medical supplies as well as a wheelchair and a vehicle to transport Brett to and from places. We lived in Massachusetts all our lives but moved down to central Florida last July 2002. My wife and I have been hit hard with a lot at once here with Brett's accident and it looks like his condition of not being able to walk and not being able to use his right arm and hand will be permanent. His therapists at Tandem will be releasing him from there to come home on Wednesday, April 30th.

Thank you

Jerrold & Theresa Bernstein

Clermont, Fl.

We are parents of Kamil, the twelve- years- old boy. Our son has a very seldom sickness: Coffin- Lowry’s syndrome; there are only a few cases in Poland. Our child is more and more sick. When he was two, he started to walk; in the age of six, he could talk. Nowadays our son can’t walk even one step. He can walk when somebody helps him, holding his hand. For seven years Kamil has been losing the control of his body in the case of sudden noise or touch. He offen falls down, so he had a jaw out of joint, dislocated teeth, sewn eyebrows and the head.

On account of these events, he is afraid of walking or sitting in a vertical position. Kamil moves only on his hand and knees, he doesn’t want to sit at the tableh he feels safely only on the floor. He has limpnes of muscles and a spinal curvature.

Doctors in Centum Zdrowia Dziecka in Warsaw adwise him a rehabilitation equipment. Its cost is too high for us.

Bo¿ena and Robert Merta

Polkowice woj.dolnoslaskie, Poland

Thanks for Caring!

Send your donations to:

Coffin-Lowry Syndrome Foundation

c/o Mary Hoffman

3045 255th Ave SE

Sammamish, WA 98075 

(U.S. Funds, please)

The CLSF Web site has moved! The new URL is