Doctors discover a previously unknown neurological disease
3/28/2006 5:55 AM
By: Ivanhoe Newswire
(DAVIS, Calif.) - A team of doctors and researchers has discovered a
previously unknown neurological disease. They say it affects about one in
3,000 people, and it's often misdiagnosed as Parkinson's or Alzheimer's. The
scariest part is it can be fatal.
It looks like a sobriety check, but Scott Lorigan is being tested for a
condition known as FXTAS. "[I had] a lack of balance, and I noticed some
short term memory issues," he said. It was affecting his work. "I tended to
not remember discussions I might have had with staff about a project."
FXTAS, or Fragile X-Associated Tremor/Ataxia Syndrome, is a progressive,
neurological condition. Doctors at the University of California, Davis,
M.I.N.D. Institute discovered it in 2001.
A team of doctors and researchers has discovered a previously unknown
neurological disease, FXTAS.
"The balance problems can get so severe that they may need a cane or a
walker; eventually they can be bedridden," said Randi Hagerman, M.D., of the
M.I.N.D. Institute. "Eventually they can have problems with swallowing and
choking, and eventually death."
The syndrome strikes mostly men over 50 who are carriers of a defective
fragile X gene. Hundreds and thousands of individuals have died from this
disorder, and it was never known what they had," Dr. Hagerman said.
The symptoms are similar to those of Alzheimer's and Parkinson's, but there
are some clear differences:
Patients keep their verbal skills
* FXTAS patients typically have a tremor during movement instead of while at
rest
* Patients with FXTAS also experience depression, anxiety and hypertension
* Cognitive and blood tests or an MRI can diagnose it, and Dr. Hagerman says
they can treat some of the symptoms of the condition, which can make a big
difference for a lot of patients and less likely FXTAS will be fatal.
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Doctors are now working on developing drugs to treat the condition itself. Dr.
Hagerman plans to begin clinical trials for medication to treat the disease
next year.
All daughters of a male with FXTAS are carriers, and these women are at a
50-percent risk with each pregnancy to have a child with fragile X. Doctors,
therefore, recommend genetic counseling.
More Information:
WHAT IS IT? Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is a
progressive, neurological condition identified by physicians at the UC Davis
M.I.N.D. Institute. It predominantly affects men older than age 50. Nearly
one in 800 men are carriers of the fragile X premutation, and as many as 30
percent of carriers may develop FXTAS later in life.
SYMPTOMS: FXTAS is commonly misdiagnosed as Parkinson's disease or Alzheimer's
disease because of similarity in symptoms. Initial signs of FXTAS may include
difficulty writing, using eating utensils, pouring water, and walking. These
symptoms progress over years or even decades until carrying out daily living
tasks without assistance becomes difficult or impossible. Other symptoms
include: short-term memory loss, anxiety, reclusive or irritable behavior,
decreased sensation in the lower extremities to touch and vibration, lower
limb weakness, tremor during movement and urinary/bowel incontinence.
DISEASE DIFFERENCES: Compared to Alzheimer's disease, the verbal abilities of
FXTAS patients are typically preserved. The tremor in FXTAS is usually an
action tremor that comes out with movement, while a tremor at rest is
associated with Parkinson's. There are also significant balance problems
early on that may not be seen in those with Parkinson's, and most FXTAS
patients cannot tandem walk.
CAUSE: The disorder occurs because of a permutation, or a small mutation, of
the FMR1 gene. The FMR1 gene is responsible for the production of FMR1
protein (FMRP), which is important for normal nerve cell function. In people
with fragile X syndrome, a particular segment of FMR1 DNA is repeated too
many times.
DIAGNOSIS: A standard DNA blood test can diagnose FXTAS. If diagnosed, doctors
recommend patients and their families undergo genetic counseling.
TREATMENT: There are currently no medications to treat the condition itself,
however, Randi Hagerman, M.D., of the M.I.N.D. Institute, plans to begin
clinical trials next year on treatments for it. The symptoms of FXTX can, in
fact be treated once a patient is diagnosed.
MORE INFORMATION: For more information on FXTAS, log onto
www.mindinstitute.org and www.fragilex.org.
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