Nancy Wexler has spent her life studying Huntington's disease—the disease that killed her mother, her uncles, and her grandfather. Now, Wexler for the first time has revealed that she, too, has the disease, Denise Grady reports for the New York Times.

Does Alice Wexler have HD?

Nancy Wexler is a New York psychologist; her sister Alice, a writer and university lecturer in California. They are perfectly healthy now, but they each have a 50% chance that they inherited the Huntington's gene from their mother. Nancy and Alice also know how horrible Huntington's is.

What did Nancy Wexler find out?

Since 1979, Wexler has led a research study in Venezuela of the world's largest family with Huntington's disease, developing a pedigree of over 18,000 individuals and collecting over 4,000 blood samples, which helped lead to the identification of the Huntington's disease gene at the tip of human chromosome 4.

What was the major point of Nancy Wexler's studies of genetics and Huntington's disease?

By jumping into the fray, Wexler enabled researchers to find a marker for the Huntington's gene, which led to a test for the disease and ultimately to mapping the gene itself, leading to the hope of one day finding a cure.

Does Nancy Wexler have children?

Wexler is 70. She does not have children, a reality affected by Huntington's. "I did decide until there was a test I would not have kids, didn't think it was fair to inflict it on them. If I wasn't around to take care of them and then they got sick."

Huntington's Disease and Nancy Wexler

Who discovered the Huntington's gene?

George Huntington (Figure 1) was the first person to provide a comprehensive description of adult-onset HD in 1872; he was only 22 years old at the time.

Is Huntington's disease autosomal dominant?

Huntington's disease is caused by an inherited defect in a single gene. Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder.

When was Nancy Wexler diagnosed with Huntington's disease?

It still felt wrong to call Dr. Wexler. But she was the heart and soul and driving force behind research into Huntington's. The discovery of the gene, in 1993, might never have happened without her.

What is the life expectancy of a person with Huntington's disease?

People with Huntington's disease usually die within 15 to 20 years of their diagnosis.

Who is Grace related to through marriage in The Westing Game?

Gracie Windsor Wexler, married to Jake Wexler and mother of Angela and Turtle, is a self-centered woman who is obsessed with her own image. She is 42 years old.

What mutation causes Huntington's disease?

The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat . This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene.

What is the function of the protein encoded by the normal Huntington's gene?

Normal Function

The HTT gene provides instructions for making a protein called huntingtin. Although the exact function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain and is essential for normal development before birth.

What is the most common cause of death in Huntington's disease?

Huntington's disease (HD) is a progressive neurodegenerative autosomal dominant disease characterized by choreatic and hypokinetic movements, disturbed behaviour, and cognitive decline. Pneumonia is the most common cause of death, followed by cardiovasculair diseases.

Is Huntington's disease the same as St Vitus dance?

HD History

HD was known as Huntington's chorea and Saint Vitus's dance in the past.

What is Huntington's disease and what does it do?

Huntington's disease (HD) is an inherited disorder that causes nerve cells (called neurons) in parts of the brain to gradually break down and die. The disease, which gets worse over time, attacks motor control regions of the brain (those involved with movement), as well as other areas.

What famous person died of Huntington's disease?

Woody Guthrie was an American songwriter, musician, writer, and political activist who died with Huntington disease (HD) in 1967 at age 55.

Has anyone survived Huntington's disease?

The survival of Huntington's disease (HD) patients is reported to be 15–20 years. However, most studies on the survival of HD have been conducted in patients without genetic confirmation with the possible inclusion of non-HD patients, and all studies have been conducted in Western countries.

What were your first symptoms of Huntington's disease?

• difficulty concentrating.
• memory lapses.
• depression – including low mood, a lack of interest in things, and feelings of hopelessness.
• stumbling and clumsiness.
• mood swings, such as irritability or aggressive behaviour.

Where did Nancy Wexler find a family with enough generations of Huntington's disease?

In Venezuela, Nancy found families living in extreme poverty, some with more than a dozen children, many of whom displayed the jerky, involuntary symptoms of HD – which used to be called “Huntington's Chorea,” after the Greek word for “choreography” for the incessant movement.

What amino acids are repeated in HD?

The mutation responsible for HD is an abnormal expansion of a CAG repeat in the HTT gene that encodes for huntingtin (HTT), a large protein of 3,144 amino acids.

Where is the HTT gene located?

The HTT gene is located on the short arm (p) of chromosome 4 at position 16.3, from base pair 3,074,510 to base pair 3,243,960.

Can two parents without Huntington's have a child who has the disease?

This surprises a lot of people because Huntington's disease (HD) is what is called a dominant genetic disease. What this usually means is that a child only has a chance of getting a disease like this if a parent has it too. But parents without HD can have a child with HD. This is true of any dominant genetic disease.

Which parent carries Huntington's disease?

In plain English, this means that you can inherit the gene, and therefore the disease, from only one parent. One of your parents is likely to have Huntington's too. Every child conceived naturally to a parent who has the faulty gene has a 50 % chance of inheriting it and the disease.

Can I get Huntington's disease if my parents don't have it?

It's possible to develop HD even if there are no known family members with the condition. Around 10% of people with HD don't have a family history. Sometimes, that's because a parent or grandparent was wrongly diagnosed with another condition like Parkinson's disease, when in fact they had HD.