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Gene for Lou Gehrig’s Disease and Frontotemporal Dementia Identified

  • - Dementia News
  • Feb 29, 2012
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  • Viewed: 2215
Tags: | amyotrophic lateral sclerosis | frontotemporal dementia | lou gehrig's disease | neurodegenerative disease |

Frontotemporal dementia and amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease -  two fatal neurodegenerative disease with distinct symptoms - are triggered by a common mutation in many cases, according to researchers who say they have identified the mutated gene.

In the study, reported in the September 21 online issue of Neuron, the scientists described the discovery of a genetic mutation that is accountable for almost 12 percent of familial FTD and more than 22 percent of familial ALS samples studied.

They also report that the defect is the strongest genetic risk factor found to date for the more common, non-inherited, sporadic forms of these diseases. It was found in 3 percent of sporadic FTD and 4 percent of sporadic ALS samples in the largest clinical patient series.

The study was led by scientists at the Mayo Clinic in Florida, in collaboration with researchers at UCSF, the University of British Columbia and UCLA. The finding emerged from the identification and study of a family stricken by both ALS and FTD, reported last year. In that study, led by the UCSF scientists and published in the Journal of Neurology, Neurosurgery and Psychiatry, the researchers honed in on the region in which the gene was located.

“Both clinically and at the molecular level this discovery is going to significantly improve our understanding of these diseases,” said co-author Adam Boxer, MD, PhD, of the UCSF Memory and Aging Center, the lead author on the 2010 paper. The discovery makes it possible to develop a diagnostic test for the mutation, as well as to create animal models that may be used to help unravel the molecular mysteries connecting the mutation to the diseases, he said.

What is Frontotemporal Dementia ?
Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick’s disease, the name and classification of FTD has been a topic of discussion for over a century.  The current designation of the syndrome groups together Pick’s disease, primary progressive aphasia, and semantic dementia as FTD.  Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex.  These designations will continue to be debated.  As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language.  The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation.  The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral type’s symptoms.  Spatial skills and memory remain intact.  There is a strong genetic component to the disease; FTD often runs in families.

In the current study, a detailed molecular genetic characterization of the family that Boxer described was done in the laboratory of senior author Rosa Rademakers, PhD, from the Mayo Clinic. She and colleagues identified the gene and the specific mutation within it.

What is amyotrophic lateral sclerosis?
Amyotrophic lateral sclerosis, or ALS, is a disease in which certain nerve cells in the brain and spinal cord slowly die. These nerve cells are called motor neurons, and they control the muscles that allow you to move the parts of your body. ALS is also called Lou Gehrig’s disease.

People with ALS gradually become more disabled. How quickly the disease gets worse is different for everyone. Some people live with ALS for several years. But over time, ALS makes it hard to walk, speak, eat, swallow, and breathe. These problems can lead to injury, illness, and eventually death. In most cases, death will occur within 3 to 5 years after symptoms begin, although some people do live for many years, even decades.

It can be very scary to learn that you have ALS. Talking with your doctor, getting counseling, or joining a support group may help you deal with your feelings. Your family members may also need support or counseling as your disease gets worse.

ALS is rare. Each year in the United States and most of the world, only 1 to 2 people out of 100,000 get ALS. Men get ALS slightly more often than women do. ALS can occur at any age, but it most often starts in middle-aged and older adults.

The mutation consists of from hundreds to thousands of extra copies of a six-letter DNA sequence GGGGCC strung end to end within a region of human chromosome nine. The mutation occurs within a gene of unknown function called C9ORF72.

Frontotemporal Dementia Signs and Symptoms

In the past, patients with frontotemporal dementia (FTD) often were misdiagnosed with depression, schizophrenia or Alzheimer’s disease. Because some FTD cases still may be misidentified, doctors at the UCSF Center for Memory and Aging say it’s difficult to determine the prevalence of the disorder but they believe FTD is the most common dementia diagnosed in patients under age 60 and is as common as Alzheimer’s disease among patients age 45 to 64.

Early symptoms typically involve personality or mood changes such as depression and withdrawal, sometimes obsessive behavior and language difficulties. Many patients lose their inhibitions and exhibit antisocial behavior.

Doctors at UCSF have identified a small group of patients who develop extraordinary visual or musical creativity, while experiencing language and social impairment.

As FTD progresses, it takes a toll on mental abilities, affecting memory and other functions that are more common in Alzheimer’s disease and other dementias. In Alzheimer’s, one of the first symptoms is memory loss. With FTD, unusual or antisocial behavior as well as loss of speech or language are usually the first symptoms.

In later stages, patients develop movement disorders such as unsteadiness, rigidity, slowness, twitches, muscle weakness or difficulty swallowing. Some patients develop Lou Gherig’s disease or amyotrophic lateral sclerosis (ALS). People in the final stages of FTD cannot care for themselves.

After identifying the mutation, the Mayo researchers searched for it in DNA from other patients with both familial and sporadic forms of the diseases, where they found the strong associations.

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