HOME >> BIOLOGY >> NEWS
New gene for rare inherited paralysis may aid other spinal cord research, too

ANN ARBOR, MI A single mutation in a single gene is enough to slowly rob people of their ability to walk, scientists from the University of Michigan and the University of Pennsylvania report today.

And while the inherited defect itself is rare, its discovery may help researchers unravel the mysteries of much more common paralyzing conditions, from spinal cord injury to Lou Gehrig's disease.

In a paper published online today in the American Journal of Human Genetics, and scheduled for the journal's October issue, the U-M and Penn team describes a new gene, called NIPA1, for a form of hereditary spastic paraplegia, or HSP.

HSP is the name given to a group of disorders affecting about 20,000 Americans. HSP gradually disables its victims as long nerve cells in the spinal cord degenerate and muscles weaken and become spastic. It is often misdiagnosed as other nerve disorders, including multiple sclerosis, cerebral palsy, and amyotrophic lateral sclerosis (also called Lou Gehrig's disease).

There is no cure for HSP, which is also sometimes called familial spastic paraparesis or Strumpell-Lorain disease. Treatment is limited to physical therapy and exercise to help retain as much muscle function as possible, drug treatment to tame spastic muscle movements, and medication to treat patients' bladder and bowel control problems, and depression.

"There are direct overlaps between this group of diseases and the nerve degeneration processes in other disorders," says senior author John Fink, M.D., professor of neurology at the University of Michigan Medical School, who has devoted his career to studying and treating HSP and related conditions. "Not only do we hope this discovery will aid HSP patients, but we also believe it will aid in understanding and perhaps stopping the fundamental processes involved in other types of spinal cord degeneration."

The newly described gene mutation on chromosome 15 causes a form of HSP that start
'"/>

Contact: Kara Gavin
kegavin@umich.edu
734-764-2220
University of Michigan Health System
25-Sep-2003


Page: 1 2 3 4

Related biology news :

1. New genetic research demonstrates possible cause of inherited form of Parkinsons disease
2. Research on inherited eye disorders uncovers new information about blood-vessel formation
3. Childhood brain tumors associated with rarely inherited BRCA2 gene mutations
4. Gene mutation exacerbates eye defect in inherited glaucoma
5. Researchers pinpoint cause of inherited form of heart failure
6. Molecular clues to an inherited epilepsy
7. Gene therapy breakthrough offers hope to patients with inherited high cholesterol levels
8. Dog model for studying inherited human blindness
9. Discovery that common mood disorders are inherited together may reveal genetic underpinnings
10. Scientists discover "missing link" between rare disease and inherited forms of breast cancer
11. Mutations in the ABCR gene are an overwhelming cause of inherited vision loss

Post Your Comments:
(Date:5/21/2015)... May 21, 2015 The Sync Project™ ... music for health, today announced a collaborative partnership with ... partnership will center on collaboration on original research, joint ... step in the collaboration, The Sync Project and BerkleeICE ... as Medicine" in the 2015-2016 academic year.  ...
(Date:5/19/2015)... -- Technology is rapidly advancing, outpacing enterprises, ability to secure ... and their management are soon to be rendered obsolete ... as those developed by the FIDO Alliance™. With the ... BYOD, COPE, IoT, and mobile payments, the interconnected online ... In response to the call for seamless, secure, ...
(Date:5/14/2015)... , May 14, 2015  Verificient Technologies, ... verification and online remote proctoring, announced a ... (SaaS) company and creator of the Canvas ... the two companies will benefit from the ... As a fully integrated multifactor ...
Breaking Biology News(10 mins):The Sync Project Announces Partnership with Berklee College of Music's Institute for Creative Entrepreneurship 2The Sync Project Announces Partnership with Berklee College of Music's Institute for Creative Entrepreneurship 3HYPR Corp. Biometric Security Integration Kit Shields Applications and Devices Across the Internet of Things 2HYPR Corp. Biometric Security Integration Kit Shields Applications and Devices Across the Internet of Things 3Verificient and Instructure Announce Alliance Partnership to Provide Online Proctoring for K-12 and Higher Education Institutions 2
(Date:5/20/2015)... , May 20, 2015  Select Medical Corporation ... Federal Trade Commission granted early termination of the ... Act of 1976, as amended, applicable to the ... Corporation, a joint venture that Select has created ... As previously announced, MJ Acquisition Corporation has ...
(Date:5/20/2015)... May 20, 2015 Agricultural firm H.J. ... of its acquisition of Tiger-Sul. Since the purchase ... Alberta, Canada) in May 2005, H.J. Baker has leveraged ... it into a comprehensive portfolio of product offerings and ... H.J. Baker and the innovation of Tiger-Sul, transforming the ...
(Date:5/20/2015)... 2015  Cypher Genomics, Inc., a leading genome ... Corporation to apply Cypher,s Coral TM technology ... patient response to innovative medicines. The information generated ... patient access to the right medicine at the ... development and potentially inform new companion diagnostics.  ...
(Date:5/20/2015)... TRIANGLE PARK, North Carolina , ... weltweit führende Unternehmen für klinische Logistik ... Finanzergebnisse für das Geschäftsjahr 2014, das ... und eingereicht. Das Unternehmen hat die ... Logo - http://photos.prnewswire.com/prnh/20110930/NY78064LOGO ...
Breaking Biology Technology:Select Medical Corporation's Proposed Acquisition of Concentra Inc. through Joint Venture with Welsh Carson Receives Antitrust Clearance 2Agricultural Firm H.J. Baker & Bro., Inc., Celebrates 10 Years Since Acquisition Of Tiger-Sul 2Agricultural Firm H.J. Baker & Bro., Inc., Celebrates 10 Years Since Acquisition Of Tiger-Sul 3Cypher Genomics Collaborates with Celgene Corporation to Identify Novel Genomic Biomarkers 2Marken schließt Ergebnisse für das Geschäftsjahr 2014 ab 2
Cached News: