Navigation Links
New genetic disorder of balance and cognition discovered

The family of disorders known as ataxia can impair speech, balance and coordination, and have varying levels of severity. Scientists from the Universities of Oxford and Edinburgh have identified a new member of this group of conditions which is connected to 'Lincoln ataxia', so called because it was first found in the relatives of US President Abraham Lincoln. The results are published in the journal PLOS Genetics.

Lincoln ataxia affects the cerebellum, a crucial part of the brain controlling movement and balance. It is caused by an alteration in the gene for 'beta-III spectrin', a protein found in the cerebellum. Each person has two copies of a gene, and in Lincoln ataxia there is an alteration in only one of the two copies. Unexpectedly, the British scientists have found cases of alterations in both copies of the gene, causing a novel disorder called 'SPARCA1' which is associated with a severe childhood ataxia and cognitive impairment.

This is the first report of any spectrin-related disorder where both copies of the gene are faulty and has given important insights into both Lincoln ataxia and SPARCA1.

The work was done using whole genome sequencing, a relatively new technology which allows all of a person's genetics information to be analysed. In addition to sequencing work, the scientists characterized the condition using mice lacking beta-III spectrin. This analysis, combined with previous work, links the protein defect to changes in nerve-cell shape in the brain areas associated with cognition and coordinated movements. The work shows that loss of normal beta-III spectrin function underlies both SPARCA 1 and Lincoln ataxia, but a greater loss of beta-III spectrin is required before cognition problems arise.

The combination of methods used in this study highlight a broad role for spectrin in normal brain function beyond the cerebellum. There are many brain spectrins and the team are now searching for other abnormalities of spectrin function, as they believe these are part of an expanding group of conditions known as "neuronal spectrinopathies".

Contact: Dr. Andrea H Nmeth
Public Library of Science

Related medicine news :

1. IntegraGen launches ARISk test, a genetic screening tool for autism in high-risk children
2. 2 genetic deletions in human genome linked to the development of aggressive prostate cancer
3. Head, Body Lice Are Genetically Very Similar
4. Certain Genetic Regions May Be Tied to Osteoporosis
5. Study of half siblings provides genetic clues to autism
6. Genetic variants, tobacco exposure and lung cancer risk
7. Research Gets Closer to Genetic Roots of Glaucoma
8. Moffitt researcher awarded GE grant to develop tool to detect breast cancer metastasis genetic risks
9. Genetically modified T cell therapy shown to be safe, lasting in decade-long study of HIV patients
10. Some women may be genetically predisposed to smoking-related hot flashes
11. Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer
Post Your Comments:
(Date:12/1/2015)... ... 01, 2015 , ... Florida Hospital Tampa is the first health care provider in ... of Florida. , vBloc® Therapy is a vagal blocking therapy, delivered via the Maestro® System, ... mass index (BMI) of at least 40 to 45 kg, or a BMI of at ...
(Date:12/1/2015)... ... ... Dr. Paul Vitenas, one of the top cosmetic surgeons in Texas ... Best Single Physician Practice in the nation. Dr. Vitenas and his practice were named ... industry publication. , Dr. Vitenas said he was very honored to receive such ...
(Date:12/1/2015)... ... December 01, 2015 , ... CloudLIMS today ... Golden Bridge Business Awards under the New Products and Services category for its ... sample management software that helps labs organize data and track samples ...
(Date:12/1/2015)... PITTSBURGH, PA (PRWEB) , ... December 01, 2015 ... ... or imaging facilities, radiographic technicians must mark the film for accurate interpretation by ... keep track of. Fortunately, an inventor from Sacramento, Calif., has found a way ...
(Date:12/1/2015)... , ... December 01, 2015 , ... ... announced it has been awarded a fixed price per sprint agile development contract ... valued at $34 million over five years, provides software engineering, infrastructure, as well ...
Breaking Medicine News(10 mins):
(Date:12/1/2015)... 2015 Pharma Tech Outlook recently conducted a ... Data Management Solution Providers - 2015 .  After careful ... CEOs, CIOs, VCs, analysts, and the Pharma Tech Outlook ... top 10 clinical data management solution providers (check out ... and 36 respectively). --> ...
(Date:12/1/2015)... Assurex Health, Inc. today announced a ... providers an expanded range of options in helping ... depression, anxiety, bipolar disorder, posttraumatic stress disorder (PTSD), ... i .   --> i ... of two new drug classes, 17 FDA-approved medications ...
(Date:12/1/2015)...  AccuTEC Blades, a leader in precision blade ... brand identity program. The new logo underscores AccuTEC,s ... products where "the edge makes all the difference."   ... Serving manufacturers and distributors of medical, food processing, ... product lines include those acquired when AccuTEC  purchased ...
Breaking Medicine Technology: