Cedars-Sinai Scientists Localize New Ataxia/Epilepsy Gene

So far, five spinocerebellar ataxia (SCA) genes have been identified. The ataxia caused by the SCA 10 gene localized by the Cedars-Sinai team is different from the other ataxias. One of these, the occurrence of seizures in 20 percent of family members suffering from the disease, indicates a possible link with epilepsy. Further study of the new gene is expected to shed new light not only on ataxia, a relatively rare inherited disease that affects one in 10,000 persons, but also on the pathogenesis of epilepsy, a condition that affects one in 100.

LOS ANGELES -- Neurogeneticists at Cedars-Sinai Medical Center in Los Angeles have localized SCA10, a gene involved with a rare form of inherited ataxia, a disease whose onset usually comes in early adulthood and that causes incoordination of gait and movement. The finding is reported in the February issue of the American Journal of Human Genetics.

Five spinocerebellar ataxia (SCA) genes had been previously identified by various research groups, including SCA2, which, like SCA10, was found by the Cedars-Sinai team of Stefan-M. Pulst, M.D. Like SCA2, SCA 10 shows anticipation, a phenomenon whereby onset of the disease is earlier and earlier with each successive generation. The presence of anticipation may provide an important clue for the isolation of the gene, since it may indicate that the genetic defect is caused by unstable DNA repeats.

In contrast to other inherited ataxias, however, 20 percent of members of the family affected by the ataxia suffered seizures. "This connection makes isolation of the genetic defect so exciting", says Dr. Pulst, "because it will likely shed light on the much more common epilepsies."

It was approximately a year ago that the Pulst team identified the Mexican-American family exhibiting the rare form of ataxia. They have now been able to localize the SCA10 gene on the long arm of chromosome 22 by conducting a search that included some 300 genetic

Contact: Sandra Van
Cedars-Sinai Medical Center

Page: 1 2

Related biology news :

1. Heart transplant surgeon at Cedars-Sinai specializes in implanting mechanisms that allow a defective heart to rest while awaiting a transplant
2. Study at Cedars-Sinai Medical Center investigates possible protective effects of plant compounds on the uterus
3. Cedars-Sinai medical tip sheet (b)
4. Researchers at Cedars-Sinai Medical Center to present first documentation of man-made chemical contaminants in the amniotic fluid of unborn babies
5. Cedars-Sinai Medical Center study identifies for the first time a molecular mechanism behind hormonal response to stress
6. Cedars-Sinai Medical Center Physicians And Scientists Present Findings At Annual Meeting Of The Pediatric Academic Societies
7. Cedars-Sinai Medical Tip Sheet For April 15 (A)
8. Studies At Cedars-Sinai Confirm Identity Of An Elusive Receptor In Human Cells -- A Breakthrough In Understanding, Fighting Septic Shock
9. GenRISK Genetic Testing Program At Cedars-Sinai Medical Center Offers Patients New Hope In Confronting Disease
10. Cedars-Sinai Tip Sheet For Dec. 21
11. Cedars-Sinai Scientist Finds Malignancy Gene In Tumor Cells

Post Your Comments:

(Date:11/14/2019)... Va. (PRWEB) , ... November 13, 2019 , ... ... today that Robert Peterson, RAC , a regulatory affairs and program management ... the biopharmaceutical and medical device industries, has joined the firm as an Expert ...
(Date:11/12/2019)... , ... November 12, 2019 , ... ... of orthopedic medical devices, today announced the creation of a Global Regulatory Affairs ... the Medical Device industry is that the regulatory element to any Medtech organization ...
(Date:11/12/2019)... ... November 12, 2019 , ... G5, the leader in ... performance up to 25% and reduces cost-per-click by as much as 15%. An ... attribution (MTA) to predict best advertising outcomes and automatically allocate daily ad investments ...
Breaking Biology News(10 mins):
(Date:11/12/2019)... , ... November 12, 2019 , ... ... services, welcomed their new Director of Forensic Genealogy, Melinde Lutz Byrne, to the ... (FGS) to ultimately provide investigative leads to law enforcement through proven genealogy ...
(Date:11/5/2019)... ... November 04, 2019 , ... Catalent, ... for drugs, biologics, gene therapies, and consumer health products, today announced the ... enhances Catalent’s proven GPEx expression platform through multiple improvements, including utilization of ...
(Date:11/2/2019)... ... October 31, 2019 , ... drug360 graph, a breakthrough knowledge ... drug360 brings tellic’s expertise in biomedical language processing and machine learning to bear ... between genes, diseases, variants, phenotypes, and other biomedical entities. Researchers and analysts ...
(Date:10/29/2019)... , ... October 29, 2019 , ... ... of the skin*. Using Silios CMS-C multispectral imagers , researchers identified people ... can replace identification based on retinal imaging, face recognition, fingerprints and vasculature. ...
Breaking Biology Technology:
Cached News: