Fragile X SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Fragile X Syndrome
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses.
Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.
Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females.
East Ann Arbor Health & Geriatrics Center
Peter K. Todd, M.D., Ph.D., is an assistant professor in the Department of Neurology in the University of Michigan Medical School.Dr. Todd earned his Bachelor of Science degree in 1994 from the University of California, San Diego. He then entered the Medical Science Training Program at the University of Wisconsin at Madison, where he completed his doctorate in 2002 and medical degree in 2004. His Ph.D research focused on synaptic defects in Fragile X Syndrome, a common inherited cause of cognitive impairment in children.He completed his internship and residency at the Hospital of the University of Pennsylvania in Philadelphia. While there, he did research on the role of the ubiquitin proteasome system and autophagy in Spinal and Bulbar Muscular Atrophy, a polyglutamine disorder, and Fragile X Tremor Ataxia Syndrome (FXTAS). He came to the U-M in 2008 for a clinical and research fellowship in movement disorders and neurogenetics.Todd joined the U-M faculty in 2010 as an assistant professor in movement disorders and neurogenetics, working in the laboratory of Henry L. Paulson, M.D., Ph.D., in the Center for Neurodegenerative Research.His current research is focused on the mechanisms underlying RNA-mediated neurodegeneration in FXTAS and myotonic dystrophy, and how these mechanisms may overlap and inform our understanding of other neurodegenerative disorders. He also sees patients with movement disorders and inherited neurological disease.Dr. Todd has received several academic awards, including a Howard Hughes Undergraduate Research Fellowship, the Francis M. Forester Prize for promise as an academic neurologist, the Samuel Ziritzky Prize for most outstanding research by a neurology resident at Penn and prizes for excellence in research at the International Conference on Unstable Microsatellites in Human Disease, and the U-M neuroscience day. Most recently, Dr Todd received the S. Weir Mitchell Alliance award from the American Academy of Neurology which each year recognizes one early investigator physician scientist who has made important contributions to basic science in neurological disorders.A member of the American Medical Association and the American Academy of Neurology, he has served as an ad-hoc reviewer for the Journal of Biological Chemistry, Neurology, Proceedings of the National Academy of Sciences, Neuron, Science and Human Molecular Genetics.His bibliography includes several peer-reviewed papers, editorials, book reviews and chapters, abstracts and online. Dr. Todd is rated as an Elite provider by MediFind in the treatment of Fragile X Syndrome. He is also highly rated in 49 other conditions, according to our data. His clinical expertise encompasses Fragile X Syndrome, Fragile XE Syndrome, Hereditary Ataxia, and Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease). Dr. Todd is board certified in Neurology.
Rush University Medical Center
Elizabeth Berry is a Pediatric Neurologist practicing medicine in Chicago, Illinois. Dr. Berry is rated as an Elite provider by MediFind in the treatment of Fragile X Syndrome. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Fragile X Syndrome, Niemann-Pick Disease, Autism Spectrum Disorder, and Rett Syndrome.
Maija Castren practices practicing medicine in Helsinki, Finland. Ms. Castren is rated as an Elite expert by MediFind in the treatment of Fragile X Syndrome. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Fragile X Syndrome, Autism Spectrum Disorder, and Cardiac Arrest.
Summary: Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability. FXS and CTD affect hemizygous males and with highly variable severity heterozygous females. Both these neurodevelopmental disorders (NDDs) have a dramatic impact on the family quality of life and the health-care system. These disorders share ...
Summary: Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome. Scientists have investigated FXS extensively in both humans and animals. Thus far, phenotypic rescue in animal models has not resulted in treatment breakthroughs in humans, though some important discoveries have been made. Research has shown that individuals with FXS process sounds different...
Published Date: April 01, 2020
Published By: National Institutes of Health