Logo Medical Science Monitor

Call: +1.631.470.9640
Closed: National Holiday

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

27 October 2016 : Hypothesis  

Therapeutic Potential of Transcranial Focused Ultrasound for Rett Syndrome

Shih-Jen TsaiAEF

DOI: 10.12659/MSM.898041

Med Sci Monit 2016; 22:4026-4029

Abstract

Rett syndrome (RTT) is a severe neurodevelopmental disorder occurring almost exclusively in females and is caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2) in the majority of cases. MeCP2 is essential for the normal function of nerve cells, including neuronal development, maturation, and synaptic activity. RTT is characterized by normal early development followed by autistic-like features, slowed brain and head growth, gait abnormalities, seizures, breathing irregularities, and cognitive disabilities. Medical management in RTT remains supportive and symptomatic. Brain-derived neurotrophic factor (BDNF) has been implicated in the pathophysiology of RTT. Recent studies have shown a phenotypic reversal by increasing BDNF expression in a RTT mouse model. Thus, manipulation of BDNF expression/signaling in the brain could be therapeutic for this disease. Transcranial focused ultrasound for (tFUS) can noninvasively focally modulate human cortical function, stimulate neurogenesis, and increase BDNF in animal studies. Consequently, tFUS may be of therapeutic potential for Rett syndrome. Further evaluation of the therapeutic effects of tFUS in Mecp2 deficient animal models is needed before clinical trials can begin.

Keywords: Brain-Derived Neurotrophic Factor - metabolism, Methyl-CpG-Binding Protein 2 - metabolism, Rett Syndrome - therapy, Ultrasonography, Doppler, Transcranial - methods

Add Comment 0 Comments

Editorial

01 February 2025 : Editorial  

Editorial: Current Approaches to Screening for Lung Cancer in Smokers and Non-Smokers

Dinah V. Parums

DOI: 10.12659/MSM.948255

Med Sci Monit 2025; 31:e948255

0:00

In Press

Review article  

Hydrogels in Oral Disease Management: A Review of Innovations in Drug Delivery and Tissue Regeneration

Med Sci Monit In Press; DOI: 10.12659/MSM.946122  

Clinical Research  

Procedure Dynamics in Transfemoral vs Transradial Cerebral Angiography: A Retrospective Study

Med Sci Monit In Press; DOI: 10.12659/MSM.947603  

Clinical Research  

Predicting Cerebral Small Vessel Disease Burden Based on Thromboelastography in Patients with Acute Ischemi...

Med Sci Monit In Press; DOI: 10.12659/MSM.946303  

Clinical Research  

Long-Term Outcomes of Implanon in Managing Adenomyosis: A 3-Year Prospective Study

Med Sci Monit In Press; DOI: 10.12659/MSM.945972  

Most Viewed Current Articles

17 Jan 2024 : Review article   6,969,459

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799

0:00

16 May 2023 : Clinical Research   701,879

Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...

DOI :10.12659/MSM.940387

Med Sci Monit 2023; 29:e940387

0:00

01 Mar 2024 : Editorial   25,628

Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and ...

DOI :10.12659/MSM.944204

Med Sci Monit 2024; 30:e944204

0:00

28 Jan 2024 : Review article   20,173

A Review of IgA Vasculitis (Henoch-Schönlein Purpura) Past, Present, and Future

DOI :10.12659/MSM.943912

Med Sci Monit 2024; 30:e943912

0:00

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750