2 results match your criteria: "Neurogenetics Reference Center[Affiliation]"
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.
Eur J Pain
January 2025
Neurogenetics Reference Center, Medical Genetics Service, CHU Pellegrin, Bordeaux, France.
Article Synopsis
- - Fabry disease (FD) is a rare genetic disorder linked to the GLA gene and is marked by a range of symptoms affecting various organs, often signaled by chronic pain.
- - Two studies were conducted to determine the prevalence of FD in chronic pain patients, testing alpha-galactosidase A activity in men and analyzing the GLA gene in women.
- - The findings indicated that FD's prevalence in this group is about 1 in 1000 individuals, suggesting that while routine screening for FD in chronic pain patients is not essential, awareness of its symptoms is crucial for diagnosis, especially with family histories of the disease.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Ann Neurol
April 2021
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Article Synopsis
- The Mediator multiprotein complex plays a key role in regulating gene transcription through RNA polymerase II.
- A study identified disease-causing variants in the MED27 gene, which is part of the Mediator complex, in 16 patients with a new neurodevelopmental syndrome.
- Affected patients displayed similar symptoms, including developmental delays, intellectual disability, motor issues, and in some cases, seizures and cataracts, highlighting the importance of MED27 in neural development, especially in the cerebellum.