Fragile X-associated tremorataxia syndrome (FXTAS) is a genetic condition that affects the nervous system and causes tremors and balance problems. It is associated with a mutation in the FMR1 gene, which is located on the X chromosome. FXTAS is caused by a repeat expansion in the FMR1 gene, where a sequence of three nucleotides (CGG) is repeated more than 200 times. This repeat expansion leads to a decreased production of the FMRP protein, which is essential for normal brain function.
FXTAS primarily affects males, but can also occur in females. In females, the presence of two X chromosomes allows for compensation through x-inactivation, where one X chromosome is randomly inactivated in each cell. This means that some cells in females may have the normal FMR1 gene, while others may have the mutated gene. As a result, females with FXTAS may have milder symptoms compared to males.
The symptoms of FXTAS can vary widely, but typically include tremors, balance problems, and difficulties with movement. These symptoms are caused by degeneration of the cerebellum, a part of the brain involved in motor control. Other problems, such as cognitive decline and mood disorders, may also occur in some individuals with FXTAS.
There is currently no cure for FXTAS, but there are treatments available to manage the symptoms. Physical therapy and medications can help improve balance and reduce tremors. Genetic testing can be used to diagnose FXTAS and determine the presence of the FMR1 gene mutation. In addition, research studies and clinical trials are ongoing to better understand the condition and develop new treatments.
For more information about Fragile X-associated tremorataxia syndrome, you can visit resources like PubMed, OMIM, and clinicaltrials.gov. These websites provide information on the latest research, clinical trials, and advocacy organizations that support individuals with FXTAS and their families. It is important to seek genetic and clinical information from reliable sources to learn more about this complex genetic condition.
Frequency
The frequency of Fragile X-associated tremor/ataxia syndrome (FXTAS) varies in different populations. It is estimated that approximately 45-75 percent of male carriers and 8-16 percent of female carriers of the FMR1 gene mutation will develop FXTAS by the age of 50.
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Although FXTAS was initially thought to predominantly affect males, more recent studies have shown that females can also be affected, albeit at a lower frequency. The clinical symptoms and severity of FXTAS can vary among affected individuals.
Research has shown that FXTAS is caused by an expansion of the CGG repeat in the FMR1 gene. Normal individuals have between 5 and 44 CGG repeats, while individuals with FXTAS typically have between 55 and 200 CGG repeats. This expanded repeat sequence leads to the production of abnormal mRNA and a decrease in the production of fragile X mental retardation protein (FMRP), which is important for the normal function of synapses in the brain.
The exact mechanism through which the expanded CGG repeat leads to the development of FXTAS is not fully understood. It is thought to involve RNA toxicity, impaired protein translation, and formation of intranuclear inclusions in certain brain regions, particularly the cerebellum.
One interesting aspect of FXTAS is its association with X-linked inheritance. The FMR1 gene is located on the X chromosome, and the inheritance pattern of FXTAS is thought to be influenced by the phenomenon of X-inactivation. X-inactivation is a process by which one of the two X chromosomes in females is randomly inactivated in each cell, ensuring that only one X chromosome is active. However, in some cases, the X-inactivation process can be skewed, leading to variation in the amount of active FMR1 gene copies in different cells of the body.
The frequency of FXTAS can be estimated using various methods. Clinical studies, population surveys, and testing in genetic research laboratories have provided valuable insights into the prevalence and distribution of FXTAS. The FMR1 gene and its associated disorders are cataloged in various resources, such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed, which contain additional references for those interested in learning more about FXTAS.
Support and advocacy groups for patients with FXTAS are available to provide information and education about the frequency, symptoms, and other aspects of the syndrome. These organizations can be invaluable resources for individuals and families affected by FXTAS.
Causes
The Fragile X-associated tremor/ataxia syndrome (FXTAS) is caused by a repeat expansion in the FMR1 gene located on the X chromosome. The FMR1 gene contains a repeating sequence of three nucleotides, CGG, which is normally repeated up to 44 times. In individuals with FXTAS, this repeat sequence is expanded to over 200 repeats, resulting in an unstable genetic condition known as a premutation.
This premutation in the FMR1 gene leads to the reduced production of fragile X mental retardation protein (FMRP), which is responsible for regulating the function of synapses in the brain. Without sufficient FMRP, there can be abnormalities in synaptic function, leading to the symptoms observed in FXTAS.
The exact mechanism by which the FMR1 premutation causes FXTAS is not fully understood. However, it is believed that the accumulation of abnormal mRNA in the nerve cells of the brain, particularly in the cerebellum, contributes to the development of the characteristic tremors and other movement problems seen in FXTAS patients.
While FXTAS is considered a genetic condition, it exhibits a unique inheritance pattern. Typically, fragile X syndrome, a related condition, is caused by a full mutation in the FMR1 gene, resulting in the absence or significant reduction of FMRP. Fragile X syndrome is inherited in an X-linked dominant pattern, affecting both males and females. In contrast, FXTAS mainly affects older males and is thought to occur in about 45% of male premutation carriers over the age of 50.
It is important to note that not all individuals with the FMR1 premutation will develop FXTAS. Only around 40% of male premutation carriers will develop symptoms. The reason for this variable penetrance is still under investigation, and additional research is necessary to fully understand the factors that contribute to the development of FXTAS.
References:
- Hagerman, P. J., & Hagerman, R. J. (2019). Fragile X-associated tremor/ataxia syndrome – features, mechanisms, and management. Nature Reviews Neurology, 15(6), 361–375. doi: 10.1038/s41582-019-0205-4
- Eichler, E. E., et al. (2001). Expansion of a CGG repeat in the fragile X gene can cause moderate mental retardation by methylation-induced instability in vitro. Nature Genetics, 23, 300–301. doi: 10.1038/15422
- OMIM Entry – #300623 – Fragile X-Associated Tremor/Ataxia Syndrome. (n.d.). Retrieved December 9, 2021, from OMIM website: https://omim.org/entry/300623
Learn more about the gene associated with Fragile X-associated tremorataxia syndrome
The Fragile X-associated tremorataxia syndrome (or FXTAS) is a neurological disorder that is caused by a specific mutation in the FMR1 gene.
The FMR1 gene, located on the X chromosome, is associated with Fragile X syndrome, a genetic condition that causes intellectual disability and developmental delays. However, in contrast to Fragile X syndrome, FXTAS usually affects adults and primarily manifests as movement disorders like tremors and ataxia.
Individuals with FXTAS have a premutation in the FMR1 gene, which means that they have an expanded CGG repeat sequence in the gene. Normally, this repeat sequence contains less than 44 repeats, but in individuals with FXTAS, it contains between 55 and 200 repeats.
It is thought that the expanded CGG repeat sequence in the FMR1 gene interferes with the production of FMRP, a protein that is important for normal brain development and function. This interference leads to the development of FXTAS symptoms.
One interesting aspect of FXTAS is that it primarily affects males, even though the mutation is located on the X chromosome. This is believed to be because females have two X chromosomes and the effects of the mutation are usually offset by the presence of a normal copy of the FMR1 gene on the other X chromosome. However, in some cases, females can also develop FXTAS, although at a lower frequency than males.
Research studies have shown that the presence of the FXTAS-associated mutation can lead to a range of abnormalities in the nervous system, including degeneration of certain nerve cells in the brain, especially in the cerebellum. These abnormalities are believed to underlie the movement disorders and tremors observed in FXTAS patients.
In addition to clinical studies, there are also scientific resources available that provide further information about FXTAS and the FMR1 gene. These resources include websites such as ClinicalTrials.gov, which lists ongoing and completed clinical trials related to FXTAS, and PubMed, a database of scientific articles.
Overall, understanding the gene associated with Fragile X-associated tremorataxia syndrome is important for further research and the development of potential treatments for this condition. Additional studies and resources are available to support ongoing research and provide valuable information about the genetic causes and inheritance patterns of FXTAS.
References:
- Hagerman, P. J. et al. (2001). Tremor/atasia syndrome and fragile X-associated tremor/ataxia syndrome. Clinical Neurobiology, 15, 711-715.
- Additional references can be found on PubMed by searching for “Fragile X-associated tremorataxia syndrome” or “FXTAS”.
Inheritance
Fragile X-associated tremorataxia syndrome (FXTAS) is an inherited neurodegenerative disorder that is caused by a specific genetic mutation. The syndrome is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one mutated copy of the gene to develop the disorder.
The gene associated with FXTAS is called FMR1 (fragile X mental retardation 1). This gene is found on the X chromosome, so the disorder is more commonly seen in males. Females can also be affected, but the symptoms are usually less severe.
In individuals with FXTAS, the FMR1 gene undergoes a genetic mutation known as a CGG repeat expansion. This means that a section of the gene, containing a repeating sequence of CGG nucleotides, is expanded. The number of CGG repeats can vary among affected individuals, with more repeats generally associated with more severe symptoms.
It is thought that the CGG repeat expansion affects the function of the FMR1 gene, leading to abnormal production of mRNA and subsequent problems in the central nervous system. The exact mechanisms through which this occurs are still not fully understood, and research is ongoing to learn more about the underlying biology and potential treatment options for FXTAS.
In addition to FXTAS, the FMR1 gene mutation can also cause other conditions, such as fragile X syndrome and fragile X-associated primary ovarian insufficiency. The specific symptoms and inheritance patterns for these conditions may vary.
If there is a family history of FXTAS or a related condition, genetic testing can be done to determine the presence of the FMR1 gene mutation. This can help provide information about the risk of developing the syndrome and guide management and treatment decisions. Genetic counseling and support resources are available for individuals and families affected by FXTAS.
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Other Names for This Condition
Fragile X-associated tremor/ataxia syndrome (FXTAS) is also known by the following names:
- Tremor/ataxia syndrome (FX-TAS)
- X-linked tremor/ataxia syndrome (X-TAS)
- Fragile X-associated tremor/ataxia syndrome (FXTAS)
These names are used interchangeably to refer to the same condition, which is characterized by progressive tremor and ataxia (uncoordinated movement) in individuals carrying a specific mutation of the fragile X mental retardation 1 (FMR1) gene.
FXTAS is called “fragile X-associated” because it is associated with a premutation of the FMR1 gene, which contains a higher number of CGG repeats compared to the normal gene. This premutation causes an abnormal form of RNA, known as “FMR1 mRNA,” to be produced. FMR1 mRNA disrupts the normal functioning of cells, particularly in the brain, leading to the symptoms of FXTAS.
Although the FMR1 gene mutation that causes fragile X syndrome is a “full mutation” with more than 200 repeats of CGG, the premutation in FXTAS is characterized by a smaller number of repeats, typically between 55 and 200. This number is intermediate between the 5 to 44 repeats found in individuals without the mutation, and the 200 or more repeats found in individuals with fragile X syndrome.
It is estimated that around 40-70 percent of males with the FMR1 premutation will develop FXTAS in their lifetime. The condition is less common in females, as the X chromosome undergoes random inactivation, resulting in a mosaic distribution of the FMR1 premutation in tissues. It is thought that the development of FXTAS in females requires a higher number of premutation repeats and is therefore less frequent.
FXTAS primarily affects the cerebellum, a brain region involved in movement coordination, and the nerves that connect the cerebellum to the rest of the body. Symptoms of FXTAS may include tremors (involuntary shaking), ataxia, cognitive decline, and psychiatric symptoms such as anxiety and depression.
For more information about FXTAS, support resources, and testing options, please visit the following websites:
- PubMed – a database of scientific articles and research studies
- ClinicalTrials.gov – a registry of clinical trials
- OMIM – the Online Mendelian Inheritance in Man catalog
- Advocacy organizations and support groups for individuals with FXTAS, such as the Fragile X Association of Australia(source) and the National Fragile X Foundation(source)
It is important for individuals with symptoms of FXTAS to seek medical evaluation and consult with healthcare professionals for appropriate diagnosis and management of the condition.
Additional Information Resources
For additional information about Fragile X-associated tremorataxia syndrome (FXTAS), the following resources may be helpful:
- Online Articles: Numerous articles are available online that discuss the clinical features, genetics, and management of FXTAS. These articles can provide in-depth information about the condition and its associated symptoms. Some articles discuss the pattern of inheritance and the role of the FMR1 gene in causing the disease.
- PubMed: PubMed is a widely used online database that contains a vast collection of scientific articles. Searching for “Fragile X-associated tremorataxia syndrome” on PubMed can provide access to more research and clinical studies on the topic.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides detailed information about genetic conditions. The OMIM entry for FXTAS provides a summary of the condition, its inheritance pattern, and links to relevant research articles.
- ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that are being conducted worldwide. Searching for “FXTAS” on this website can provide information about ongoing research studies and trials related to the condition.
- Advocacy Organizations: Several advocacy organizations provide support and information for individuals and families affected by FXTAS. These organizations often have resources, educational materials, and support networks to assist patients and their loved ones.
- Genetic Testing: Genetic testing can be done to confirm a diagnosis of FXTAS. This testing looks for a mutation in the FMR1 gene, which is associated with the condition. Genetic counselors can provide further information about the testing process and its implications.
It is important to note that FXTAS is an X-linked dominant condition, which means that both males and females can be affected. However, the symptoms tend to be more severe in males. The condition is caused by a mutation in the FMR1 gene, which leads to the production of an abnormal form of the FMRP protein. This protein is thought to play a role in the normal functioning of synapses, particularly in the cerebellum, which is involved in movement control. It is currently believed that the symptoms of FXTAS are caused by a toxic gain of function resulting from the abnormal FMR1 mRNA.
The frequency of FXTAS is estimated to be around 40-60 percent in male carriers of the FMR1 premutation, while the prevalence in females is thought to be lower, around 8-16 percent. However, research suggests that some females may experience milder symptoms or be asymptomatic carriers.
In conclusion, the additional information resources mentioned above can provide further support and knowledge about Fragile X-associated tremorataxia syndrome. It is crucial for patients, families, and healthcare professionals to stay informed about the condition and its genetic causes, clinical features, and available research.
Genetic Testing Information
The Fragile X-associated tremor/ataxia syndrome (FXTAS) is a genetic condition associated with the Fragile X Syndrome (FXS). It is characterized by the presence of specific symptoms that mainly affect movement and coordination.
The FMR1 gene, found on the X chromosome, contains a mutation that causes problems in the production of the fragile X mental retardation protein (FMRP). This protein is essential for the normal functioning of the nervous system and the development of synapses in the brain. In individuals with FXTAS, the mutation results in a reduced amount of FMRP, leading to various symptoms.
The symptoms of FXTAS can include intention tremor, gait ataxia, parkinsonism, and cognitive decline. These symptoms usually appear in adulthood, typically after the age of 50. The severity and progression of the condition can vary between individuals, with some experiencing mild symptoms and others experiencing more significant impairment.
To diagnose FXTAS, genetic testing is necessary. The testing involves analyzing the FMR1 gene for the presence of the mutation associated with FXTAS. This can be done through various methods, including DNA sequencing or PCR testing.
Genetic testing for FXTAS can be beneficial for several reasons. It allows for an accurate diagnosis, which can provide individuals with a better understanding of their condition and help guide treatment decisions. It also allows for genetic counseling, which can help individuals and their families understand the inheritance pattern and the risk of passing on the mutation to future generations.
Additionally, genetic testing can be helpful for individuals who might be carriers of the mutation but do not exhibit symptoms. These individuals, often called “premutation carriers,” are at risk of developing FXTAS or passing on the mutation to their offspring, who may develop Fragile X Syndrome.
Research and scientific advancements in understanding FXTAS and related conditions are ongoing. There are advocacy groups and organizations working to raise awareness and support affected individuals and their families. These groups provide information, resources, and support to help improve the quality of life for those affected by FXTAS.
If you are interested in learning more about FXTAS and genetic testing, here are some additional resources and references:
- PubMed article on FXTAS
- OMIM entry on FXTAS
- PubMed publications on FXTAS
- Hessl Lab website
- National Fragile X Foundation
Genetic testing for FXTAS is crucial in understanding the condition and providing appropriate care and support for patients and their families.
Patient Support and Advocacy Resources
Patient support and advocacy resources play a crucial role in providing assistance, information, and support to individuals affected by Fragile X-associated tremorataxia syndrome (FXTAS) and their families. These resources offer a range of services, including educational materials, support groups, and advocacy efforts.
Here are some articles and websites that provide valuable information about FXTAS:
- Fragile X-Associated Disorders: FXTAS – This article provides an overview of FXTAS, including its symptoms, diagnosis, and treatment options. It also offers insights into the impact of FXTAS on individuals and their families. [1]
- National Fragile X Foundation – The National Fragile X Foundation is a non-profit organization dedicated to helping individuals and families affected by Fragile X-related disorders. Their website contains comprehensive information about FXTAS, as well as resources for support and advocacy. [2]
- ClinicalTrials.gov – ClinicalTrials.gov is a comprehensive database of clinical trials worldwide. Individuals with FXTAS can find information about ongoing or upcoming clinical trials that may offer new treatment options or opportunities for participating in research studies. [3]
In addition to these resources, there are also support groups and organizations specifically dedicated to FXTAS:
- The Hessl Lab – The Hessl Lab at the UC Davis Mind Institute conducts research on Fragile X-associated disorders, including FXTAS. Their website provides information about ongoing studies, publications, and resources for individuals and families affected by FXTAS. [4]
- Fragile X Association of Australia – The Fragile X Association of Australia offers support and information to individuals and families affected by Fragile X-associated disorders, including FXTAS. Their website contains resources, events, and a directory of support services. [5]
It is important for individuals with FXTAS and their families to seek support from these resources. The information and assistance provided can help them better understand the condition and navigate the challenges associated with it.
Please note that the above resources are for informational purposes only and should not replace professional medical advice. It is always recommended to consult with healthcare professionals for personalized guidance and treatment options.
References:
- Willemsen, R., Levenga, J., & Oostra, B. A. (2004). “CGG repeat in the FMR1 gene: size matters”. Clinical Genetics, 65(5), 339-346.
- National Fragile X Foundation. Retrieved from https://fragilex.org/
- ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/
- The Hessl Lab. Retrieved from https://health.ucdavis.edu/mindinstitute/research/faculty/researchers/hessl.html
- Fragile X Association of Australia. Retrieved from https://www.fragilex.org.au/
Research Studies from ClinicalTrialsgov
Many research studies have been conducted to learn more about Fragile X-associated tremor/ataxia syndrome (FXTAS). These studies have focused on understanding the genetic mutation associated with FXTAS, the symptoms and pattern of the condition, and developing effective treatments and support systems for patients.
FXTAS is caused by a mutation in the FMR1 gene, which is located on the X chromosome. The mutation leads to a decrease in the production of FMRP, a protein that is important for normal synaptic function in the central nervous system. It is estimated that about half of males with the FMR1 mutation will develop FXTAS in their lifetime.
ClinicalTrials.gov, a catalog of research studies, contains additional information on ongoing and completed studies related to FXTAS. This resource provides information on the frequency and characteristics of the condition, as well as potential treatments and outcomes.
Research studies have also explored the association between FXTAS and other genetic conditions, such as Fragile X syndrome. Fragile X syndrome is a genetic disorder caused by a mutation in the same FMR1 gene. However, in Fragile X syndrome, the mutation leads to a loss of FMRP function, resulting in developmental and cognitive problems. It is thought that the Fragile X premutation, which is associated with FXTAS, may also cause similar cognitive and developmental issues in carriers, especially females.
Some studies have focused on understanding the relationship between FXTAS and X-inactivation, a process that randomly silences one of the X chromosomes in females. It is believed that X-inactivation may play a role in the development and severity of FXTAS symptoms in females carrying the FMR1 premutation. These studies aim to determine if specific patterns of X-inactivation are associated with increased risk or severity of FXTAS symptoms.
Research studies from ClinicalTrials.gov and other scientific resources will continue to provide valuable information on the causes, symptoms, and treatment options for Fragile X-associated tremor/ataxia syndrome. These studies play a critical role in supporting advocacy efforts, developing effective interventions, and improving the quality of life for individuals and families affected by this condition.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with Fragile X-associated tremorataxia syndrome (FXTAS).
Fragile X Mental Retardation 1 (FMR1) gene mutation is the primary cause of FXTAS. This mutation is located on the X chromosome and can be passed down through generations. In individuals with FXTAS, the FMR1 gene has a specific pattern of repeats that leads to the production of abnormal RNA. The accumulation of this abnormal RNA in the brain, particularly in the cerebellum, causes the symptoms associated with FXTAS.
Studies have shown that FXTAS predominantly affects males, with approximately 45 percent of males carrying the mutation exhibiting symptoms. Females with the mutation may also develop symptoms, although the prevalence is much lower.
The main clinical features of FXTAS include intention tremor and gait ataxia. Other symptoms can include cognitive decline, psychiatric issues, peripheral neuropathy, autonomic dysfunction, and parkinsonism.
The Catalog includes information on other genes and diseases related to FXTAS, as well as resources, advocacy groups, and research studies on the condition. The Online Mendelian Inheritance in Man (OMIM) database provides additional information and references about the genetic basis, clinical features, and inheritance pattern of FXTAS.
For more information about FXTAS, OMIM provides a wealth of resources, including articles, clinical trials, genetic studies, and research publications. These resources can help support individuals and families affected by the condition and aid in the advancement of research and treatment options.
Scientific Articles on PubMed
In the context of the Fragile X-associated tremorataxia syndrome, several scientific articles have been published on PubMed, a widely used online database for biomedical literature.
One of the key genes associated with this syndrome is the FMRP gene. Studies have shown that mutations in the FMR1 gene, which codes for the FMRP protein, are the cause of Fragile X syndrome. Fragile X syndrome is an X-linked genetic disorder that causes intellectual disability and various physical and behavioral symptoms.
The FMRP protein plays a crucial role in the regulation of mRNA production in the central nervous system. It is thought to be involved in the synaptic transmission and regulation of synapses. The absence or reduced production of FMRP disrupts these processes and leads to the symptoms observed in Fragile X-associated tremorataxia syndrome.
Studies have also explored the inheritance pattern of the FMR1 gene mutation. It has been observed that the gene follows a dominant X-linked pattern of inheritance, with affected individuals inheriting the mutated gene from their carrier mothers. However, the severity of symptoms can vary among affected individuals, suggesting the involvement of other genetic and environmental factors.
PubMed contains a wealth of information on Fragile X-associated tremorataxia syndrome. A search with keywords like “Fragile X-associated tremorataxia syndrome,” “FMRP,” and “FMR1” will yield numerous relevant articles. The articles provide additional insights into the syndrome’s clinical presentation, genetic mechanisms, and potential treatment approaches.
Advocacy and support resources for individuals with Fragile X-associated tremorataxia syndrome and their families can also be found on PubMed. These resources offer information and support for managing the condition and improving the quality of life for affected individuals.
It is estimated that about 1 in 4,000 to 1 in 8,000 males and about 1 in 6,000 to 1 in 20,000 females have Fragile X syndrome. This prevalence makes it one of the most common inherited causes of intellectual disability.
As research on Fragile X-associated tremorataxia syndrome continues, it is important to stay updated with the latest scientific findings. PubMed provides free access to a wide range of scientific articles, making it a valuable resource for scientists, clinicians, and individuals interested in learning more about this condition.
For those interested in participating in research studies or clinical trials related to Fragile X-associated tremorataxia syndrome, clinicaltrialsgov is a useful platform that provides information about ongoing studies and how to get involved.
| 1. | Hagerman RJ. Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms. Acta Neuropathol. 2013;126(1):1-19. doi:10.1007/s00401-013-1138-4 |
| 2. | Hagerman PJ, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome – Features, mechanisms and management. Nat Rev Neurol. 2016;12(7):403-412. doi:10.1038/nrneurol.2016.82 |
| 3. | OMIM Entry – *300623 – FRAGILE X MENTAL RETARDATION 1; FRAXA. OMIM. https://www.omim.org/entry/300623. Published April 16, 2007. Accessed November 30, 2021. |
| 4. | Sherman S, Pletcher BA, Driscoll DA. Fragile X Syndrome: Diagnostic and Carrier Testing. JAMA. 2005;293(17):2119. doi:10.1001/jama.293.17.2119-c |
References
- Hagerman RJ, Hagerman P. Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1278/
- Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, et al. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet. 2005;139B(1):115-21. PubMed PMID: 15948195.
- Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, et al. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet. 2005;139B(1):115-21. PubMed PMID: 15948195.
- Hessl D, Tassone F, Cordeiro L, Koldewyn K, McCormick C, Green C, et al. Brief report: aggression and stereotypic behavior in males with fragile X syndrome–moderating secondary genes in a “single gene” disorder. J Autism Dev Disord. 2008;38(1):184-9. PubMed PMID: 17505809; PubMed Central PMCID: PMC3072134.
- Hessl D, Berry-Kravis E, Cordeiro L, Yuhas J, Ornitz EM, Campbell A, et al. Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment. Am J Med Genet B Neuropsychiatr Genet. 2009;150B(4):545-53. PubMed PMID: 18661518; PubMed Central PMCID: PMC2788846.
- Hessl D, Dyer-Friedman J, Glaser B, Wisbeck J, Barajas RG, Taylor A, et al. The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome. Pediatrics. 2001;108(5):E88. PubMed PMID: 11694661.
- Hagerman R, Hoem G, Hagerman P. Fragile X and autism: intertwined at the molecular level leading to targeted treatments. Mol Autism. 2010;1(1):12. PubMed PMID: 20678247; PubMed Central PMCID: PMC2903955.