Friedreich ataxia presenting as sudden cardiac death in childhood: Clinical, genetic and pathological correlation, with implications for genetic testing and counselling

Ok, well this is a start...
Link:

http://friedreichscientificnews.blogspot.com/2010/03/friedreich-ataxia-presenting-as-sudden.html

slide shows from NAF conference

Hi everyone,

I received this link today... It is a collection of slide Shows from the
recent NAF conference in Chicago. You will notice that not every slide
show is FA specific, but there are quite a few worth looking at. ( they
are listen on the right hand colum under the title
"The 53RD Annual Membership Meeting Presentations "WINDS OF PROGRESS"
Chicago, IL - March 12-14, 2010")

Cheers everyone
http://www.ataxia.org/events/Presentations-Chicago2010.aspx

healthy eating twist

Hi, I had this sent today ( thanks Juan Carlos) in light of the healthy
eating policies around, this marks some potential issues for
Mitochondrial disease sufferers

http://www.springerlink.com/content/q38138074x12061q/

interesting news for babelFAmily

http://www.babelfamily.org/en/latestataxianews/721-genetics-telethon-italy-funds-discovery-of-the-cause-of-a-new-form-of-ataxia

http://www.babelfamily.org/en/latestataxianews/720-we-can-fight-friedreichs-with-research

Yalumba joins the party

Hi everyone,

this is just to announce that Yalumba wines will be providing the
drinking wine for this years Charity Dinner SA 2010.

Thanks to Brad for organising this for us.

PubMed Search Results

PubMed Results

Item 1 of 1

1.	FASEB J. 2010 Mar 10. [Epub ahead of print] Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question. Armstrong JS, Khdour O, Hecht SM. Center for BioEnergetics, Biodesign Institute, Arizona State University, Tempe, Arizona, USA. Friedreich's ataxia (FRDA) is a hereditary neurodegenerative disease that frequently culminates in cardiac failure at an early age. FRDA is believed to arise from reduced synthesis of the mitochondrial iron chaperone frataxin due to impaired gene transcription, which leads to mitochondrial iron accumulation, dysfunction of mitochondrial Fe-S containing enzymes, and increased Fenton-mediated free radical production. Recent reports have challenged this generally accepted hypothesis, by suggesting that the oxidative stress component in FRDA is minimal and thereby questioning the benefit of antioxidant therapeutic strategies. We suggest that this apparent paradox results from the radically divergent chemistries of the participating reactive oxygen species (ROS), the major cellular subcompartments involved and the overall cellular responses to ROS. In this review, we consider these factors and conclude that oxidative stress does constitute a major contributing factor to FRDA pathology. This reaffirms the idea that the rational design of specific small molecule multifunctional antioxidants will benefit FRDA patients.-Armstrong, J. S., Khdour, O., Hecht, S. M. Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question.
	PMID: 20219987 [PubMed - as supplied by publisher]

Deceptive model: Stem cells of humans and mice differ more strongly than suspected

http://www.sciencedaily.com/releases/2010/03/100308095445.htm

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I saw this on Times Online and thought you might be interested

Gene therapy for spinal muscular atrophy could be tested in 2 years

http://www.timesonline.co.uk/tol/news/science/medicine/article7044533.ece

FARA announces the 2010 Ataxian Athlete Initiative

FOR IMMEDIATE RELEASE

The Friedreich's Ataxia Research Alliance Announces the 2010 Ataxian
Athlete Initiative

March 10, 2010- Part of the mission of Ride Ataxia is to "EMPOWER
Ataxians by inspiring, motivating and providing opportunities to develop
physical and mental strength." Through the 2010 Ataxian Athlete
Initiative, Ride Ataxia will fund the purchase of adaptive cycling
equipment for aspiring Ataxian Athletes so they may start their personal
Ride Ataxia Adventure.

The Ataxian Athlete Initiative (AAI) is brought to you by Ride Ataxia, a
FARA Program. The 2010 AAI is funded by a Quality of Life grant from the
Christopher and Dana Reeve Foundation. The funding from the Reeve
Foundation will allow the AAI to provide multiple awards in 2010.

AAI is administered through a grant application process. Individuals
must have been diagnosed with some form of ataxia to qualify. The AAI is
available to Ataxians worldwide. A complete application must be
submitted by July 1, 2010 to be considered for an AAI grant award.

As part of the application individuals will select the most appropriate
adaptive cycling equipment to suit their abilities and aspirations. In
addition, applicants are asked to submit both general and financial
information as well as an essay summarizing their experience with Ataxia
and their fitness goals.

All applications will go through a formal review and selection process.
The applications will be reviewed by a panel of Disabled Athletes,
Ataxians, and other representatives of the ataxia community. To find out
more and for application instructions go to: Ataxian Athlete Initiative
2010.

About Ride Ataxia
The mission of Ride Ataxia is to Educate the public about ataxia by
drawing attention through acts of physical endurance, Enable the
advancement of ataxia research through collaborative financial support,
and Empower Ataxians by inspiring, motivating, and providing
opportunities to develop physical and mental strength.

There will be four Ride Ataxia events in 2010- Tampa Bay, FL, April 13;
Northern California- Folsom, CA, May 15-16; Philadelphia, PA October
TBD; Southern California- Los Angeles, CA, December 4-5.
www.rideataxia.org .

About Friedreich's Ataxia Research Alliance (FARA)
The Friedreich's Ataxia Research Alliance (FARA) is a 501(c)(3),
non-profit, charitable organization dedicated to accelerating research
leading to treatments and a cure for Friedreich's ataxia.
www.curefa.org.

Contact

Kyle Bryant
Founder, Ride Ataxia- a FARA program
(916) 203-3238
kyle@rideataxia.org

Article in Neurology Magazine

thanks to Susie Esqueda for sharing this article/

Neurology Now:

January/February 2010 - Volume 6 - Issue 1 - p 12–13

doi: 10.1097/01.NNN.0000368484.78547.a7

Departments: The Waiting Room

This Way In: Friedreich's Ataxia
Stump, Elizabeth
There is promising news on the horizon for people with Friedreich's
ataxia, a neurological disease that causes progressive muscle weakness,
difficulty walking, slurred speech, and heart problems. The discovery of
the mechanism for a potential drug treatment was reported in the
September 25, 2009 issue of the medical journal Chemistry & Biology.

A team of researchers led by Joel Gottesfeld, Ph.D., professor of
molecular biology at the Scripps Research Institute in LaJolla, CA,
discovered the specific enzyme target of a compound called 4b that stops
the progression of the disease in mice. Dr. Gottesfeld's team discovered
the compound three years ago but didn't know how it worked. Now, having
identified the particular enzyme that 4b blocks, they are developing
targets for treatment.

The term "ataxia" can refer to problems with movement and coordination
that occur with several different neurological conditions. The term also
indicates a group of degenerative and progressive diseases of the
nervous system that occur sporadically or—as in the case of Friedreich's
ataxia—through genetics.

Friedreich's ataxia affects 1 in every 20,000 to 50,000 people in the
United States. Men and women are equally affected. The cause of
Friedrich's ataxia is a defect in a gene, located on chromosome 9, that
reduces the amount of a protein called frataxin in patients. Frataxin is
found in the energy-producing parts of the cell. Without a normal level
of frataxin, certain cells in the body cannot effectively produce energy
or rid themselves of toxins, resulting in degeneration. For example, the
spinal cord becomes thinner, and nerve cells that control limb movement
lose some of their myelin sheath (the covering on all nerve cells that
helps conduct nerve impulses).

Researchers believe the genetic defect attracts a group of enzymes known
as histone deacetylases, which inactivate expression of the frataxin
gene. In 2006, Dr. Gottesfeld's team reported that 4b blocked activity
of these enzymes, jumpstarting frataxin production in white blood cells
taken from Friedreich's patients. Later work showed that a close
derivative of 4b increased frataxin production in a mouse model for
Friedreich's ataxia. The most recent work has identified the specific
histone deacetylase enzyme that is blocked by 4b.

The degeneration of nerve tissue in Friedreich's ataxia leads to muscle
weakness and wasting in the hands, feet, and lower legs, which is why
patients are often confined to a wheelchair within 10 to 20 years of the
appearance of symptoms. Typically, symptoms begin in patients ages 5 to
15. Difficulty with walking is usually the first symptom to appear. As
the disease progresses, patients may experience a gradual loss of
sensation in the extremities; rapid, involuntary eye movements; slow,
slurred speech; spinal curvature (scoliosis); and heart disease and
heart failure.

The rate of progression and the life expectancy varies from person to
person. Most people with Friedreich's ataxia die in early adulthood if
they have significant heart disease (the most common cause of death in
these patients). Some people with less severe symptoms of Friedreich's
ataxia live into their sixties or seventies.

In order to diagnose Friedreich's ataxia, neurologists perform a careful
clinical examination. They may also perform tests such as an
electromyogram (EMG), which measures the electrical activity of muscle
cells; electrocardiogram (EKG), which shows the beat pattern of the
heart; magnetic resonance imaging (MRI) or computed tomography (CT)
scan, which show a picture of the brain and spinal cord; a spinal tap to
examine the cerebrospinal fluid; nerve conduction studies, which measure
the speed with which nerves transmit impulses; blood and urine tests to
look for high glucose levels; and genetic testing to identify the
affected gene.

Adaptive devices (such as canes or walkers), therapies (such as speech
therapy to improve speech and aid swallowing), and medications for
accompanying complications (like heart problems) can assist patients.

Although there is no effective treatment or cure for Friedreich's
ataxia, researchers are hard at work.

"Idebenone has shown some efficacy in preventing or reversing the
associated heart disease, but even idebenone has failed to reverse or
slow progression of the neurological symptoms," Dr. Gottesfeld says.
"Our compounds—called histone deacetylase inhibitors—target the loss of
frataxin protein, which is the cause of the disease. They do this by
reactivating the gene that is silenced in Friedreich's ataxia."

Dr. Gottesfeld will continue to study how the enzyme blocked by 4b
controls frataxin production and its relationship to inactivating the
frataxin gene. Repligen Corporation, which was involved in Dr.
Gottesfeld's study, is doing all of the pre-clinical testing necessary
to initiate a human safety trial.

"Erythropoetin has also been found to increase the levels of frataxin
protein, and this drug is in clinical trials," Dr. Gottesfeld adds.

Genetic testing assists with prenatal diagnosis, clinical diagnosis, and
carrier status determination. Psychological counseling and support
groups may also help patients and their families cope.

Back to Top | Article Outline

Ataxia Resources
▸ Friedreich's Ataxia Research Alliance (FARA) 703-426-1576, CureFA.org

▸ Genetic Alliance 202-966-5557 or 800-336-GENE (4363)
geneticalliance.org

▸ Muscular Dystrophy Association 520-529-2000 or 800-344-4863, mda.org

▸ National Ataxia Foundation 763-553-0020, ataxia.org

▸ National Organization for Rare Disorders (NORD) 203-744-0100 or
800-999-NORD (6673), rarediseases.org

▸ National Society of Genetic Counselors 312-321-6834, nsgc.org

Elizabeth Stump