Navigation Links
Researchers ID gene behind primary cervical dystonia, a neck-twisting disorder
Date:3/5/2012

JACKSONVILLE, Fla. Researchers have identified a gene that causes adult-onset primary cervical dystonia, an often-painful condition in which patients' necks twist involuntarily. The discovery by a team from the Jacksonville, Fla., campus of Mayo Clinic and the University of Tennessee Health Sciences Center sheds light on a movement disorder that physicians previously could seldom explain. Their research appears in the Annals of Neurology.

In 1990, a man with a crooked neck came to see Ryan Uitti, M.D., a neurologist then at Mayo Clinic in Rochester, Minn. Dr. Uitti knew about adult-onset primary cervical dystonia, which results in involuntary twisting of the neck to the left or right, backward or forward. Most people who have it suffer from muscle pain and abnormalities in head position. Some don't think it is all that unusual and may not seek medical help, Dr. Uitti says.

"They think they slept wrong at some point, or, because the twisting might straighten out with another maneuver, such as walking backwards, they might actually be accused of being a little crazy," Dr. Uitti says.

Dr. Uitti had been taught that there is usually no explanation for the disorder, when it shows up in adulthood. But working with a team of neurologists who have found the genetic causes of other rare conditions, Dr. Uitti began to investigate.

His patient first said no one in his family had the same problem. Dr. Uitti soon found out that his patient had an identical twin whose head was also twisted, but in the opposite direction. And when Dr. Uitti went to visit their sister, she had the same kind of dystonia. Eventually, seven people in the extended family were diagnosed with this mysterious condition. "I heard a lot of explanations by the family for it, such as that one member got hit by lightning," he says.

In 1994, when Dr. Uitti relocated to Mayo Clinic's campus in Florida, he continued his research into the genetic basis of this neurological disorder, which is also known as spasmodic torticollis. He used the research infrastructure provided by the Morris K. Udall Center of Excellence for Parkinson's Disease Research, funded by the National Institutes of Health, and collaborated with a Mayo team that included Parkinson's gene hunter Zbigniew Wszolek, M.D.

They and researchers from the University of Tennessee Health Sciences Center, with Mark LeDoux, M.D., Ph.D., as the lead neurogeneticist, are reporting the first gene that causes primary cervical dystonia. Their finding is based on genetic material donated by this family the first extended "cohort" identified and others with the condition.

The researchers found a mutation in the CIZ1 gene that makes a protein expressed in certain nerve cells in the brain and which seems to be involved in cell cycle activities. The actual mechanism has not yet been identified, Dr. Uitti says: "It is interesting because the brain tissue of folks with this disorder looks absolutely normal."

Textbooks say that adult-onset primary cervical dystonia affects about 30 of every 100,000 people, but Dr. Uitti believes it is not that rare. "Cervical dystonia is the most common focal, fixed, adult-onset dystonia. But I suspect most people don't seek medical attention for a little bit of neck twisting or tilting," he says.

There are several treatments. Most common is the use of botulinum toxin injections to incapacitate the nerve in the affected muscle, eliminating chronic pain and muscle pulling/contraction.

Dr. Uitti believes CIZ1 is one genetic cause of this disorder, and that other genes will be found. But he is elated that at least one explanation for it has been found. "While it took over 20 years, at least it took place in my lifetime," he says. "This discovery reflects the first genetic cause for this condition ever identified."


'/>"/>

Contact: Kevin Punsky
punsky.kevin@mayo.edu
904-953-2299
Mayo Clinic
Source:Eurekalert

Related medicine news :

1. Researchers find sarcoma tumor immune response with combination therapy
2. Mayo researchers provide atomic view of a histone chaperone
3. Researchers find potential solution to melanomas resistance to vemurafenib
4. Kessler Foundation researchers present at DC Conference on Race, Ethnicity and Disabilities
5. Researchers Spot Genes Behind Macular Degeneration
6. 90 percent of firefighters exhibit symptoms of PTSD according to Ben-Gurion University researchers
7. New blood test for early cancer detection developed by Ben-Gurion University researchers
8. UC Davis MIND Institute researchers to present on autism at AAAS Annual Meeting in Vancouver
9. Nasty superbug is being studied by UB researchers
10. Researchers see differences in Autism brain development as early as 6 months
11. As diabetes emerges, researchers track diseases first steps
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/20/2017)... ... January 20, 2017 , ... Source Vitál Apothecary, a skin ... pure essential oils, announced the company had a successful visit to the 2017 ECRM ... event gives companies that work in the nutritional, sports and health industries a chance ...
(Date:1/20/2017)... ... , ... Lice Troopers, the lice removal company based in South Florida, has ... holiday season. , “It happens every year around this time,” says owner, Arie ... which is the head-to-head gateway that lice need to spread.” , As children return ...
(Date:1/20/2017)... ... ... Michael and Betsy Brauser celebrated 5 years of Betsy’s participation in a ... has been life-saving as she has been on the trial for more than six ... ovarian cancer in 2009. She underwent standard chemotherapy but a year later went to ...
(Date:1/20/2017)... ... January 20, 2017 , ... “Mary Magdalene: Grace is ... life of the woman who witnessed Jesus Christ firsthand. “Mary Magdalene: Grace is Greater ... spent her career as an educator interacting with countless women who had little knowledge ...
(Date:1/20/2017)... ... ... fine examination of how God handles sin, including how to let go of lingering guilt ... over ten long years has been waiting to release this powerful insight about forgiveness that ... serving the Lord for over twenty years, and he has been preaching and teaching the ...
Breaking Medicine News(10 mins):
(Date:1/19/2017)... , Jan. 19, 2017 Many patients ... for their medication when a pharmacy just a few ... prescription.  To alleviate this problem Medicationdiscountcard.com has ... to see exactly how much their medication will cost ... Made Easy Medicationdiscountcard.com ...
(Date:1/19/2017)... Calif. , Jan. 19, 2017  Abaxis, Inc. ... manufacturing point-of-care blood analysis instruments and consumables for the ... call to discuss its financial results for the third ... call will be at 4:15 p.m. ET on Thursday, ... for the third quarter fiscal year 2017 after the ...
(Date:1/19/2017)... ALTO, Calif. , Jan. 19, 2017   ... research, is excited to announce that the first ... Cancer Biology  (RP:CB) have been published in eLife ... this project represents the first practical evaluation of ... result in reproducible studies. Unlike other assessments of ...
Breaking Medicine Technology: