Parkinson's Disease: Genetic Risk Factors, Family History and Research

Thursday, April 04, 2013 11:47 AM comments (0)

April is National Parkinson’s Disease Awareness Month. All this month, we will feature a series of posts addressing Parkinson’s disease symptoms, genetics, treatment options and more from NorthShore neurologists—Demetrius Maraganore, MD, Aikaterini Markopoulou, MD, and Ashvini Premkumar, MD— to raise awareness about this common and often disabling neurological disorder.

by Demetrius Maraganore, MD:


laboratoryAre the children of a parent with Parkinson’s disease likely to inherit the disease? Is there a greater risk if the father or the mother has the disease?

My research team conducted family studies that defined the risk of inheriting Parkinson’s disease. The children of Parkinson’s disease patients carry a two-fold risk for Parkinson’s disease. They are twice as likely to get Parkinson’s disease compared to the children of persons without Parkinson’s disease. However, one needs to consider that the lifetime risk for Parkinson’s disease in the general population is 2%, so the risk of Parkinson’s disease for the children of a patient is 4%, or twice the baseline risk for the general population. That’s a pretty low risk and I wouldn't recommend any specific lifestyle changes or preventive therapies for the children of patients with Parkinson’s disease.
 
That said, about 5% of Parkinson’s disease cases are due to an inherited gene abnormality (mutation). In families where multiple members have Parkinson’s disease, the risk may be as great as 50% to the children of an affected person. When there are multiple family members with Parkinson’s disease, I refer patients for genetic counseling and in some instances we also perform genetic testing. 

What are the most important genetic risk factors for Parkinson’s disease?

There are two types of genetic factors that are important to Parkinson’s disease: 1) genes that rarely cause familial Parkinson’s disease (multiple affected members in the same kindred), and 2) genes that are not causal but that slightly increase the risk for Parkinson’s disease in populations worldwide (susceptibility genes). About a dozen genes have been identified as rare causes of familial Parkinson’s disease, and about a dozen genes have been identified as common risk factors in populations worldwide. The causal gene mutations are rare, accounting for less than 5% of all Parkinson’s disease cases. The susceptibility gene variants are common—e.g., occurring in 25% of persons in the general population—but they have small effects (no more than doubling the risk for Parkinson’s disease). 

Of all of the Parkinson’s disease genes, the most important is alpha-synuclein because it is both a causal gene in some families and also a susceptibility gene in populations worldwide. In other words, rare variants (mutations) cause Parkinson’s disease in rare families, while common variations (polymorphisms) increase the risk for Parkinson’s disease worldwide.

The alpha-synuclein gene holds the code for making the protein alpha-synuclein. The protein alpha-synuclein accumulates abnormally in the brain cells of every patient with Parkinson’s disease regardless of the causes. Many scientists believe that it holds the key to understanding and curing Parkinson’s disease. Our research team at NorthShore has led many of the most important studies of alpha-synuclein and Parkinson’s disease, including studies in families and in populations worldwide. We were also amongst the first to study the interaction of alpha-synuclein with other genes or environmental factors, or to study the association of the alpha-synuclein gene with motor and cognitive outcomes in Parkinson’s disease. 

Are there genetic research studies of Parkinson’s disease at NorthShore? How can I participate?

At NorthShore we are conducting a genetic study called the DodoNA Project. We aim to discover genetic factors that predict how neurological diseases progress in severity and that predict disease outcomes. We aim to use this information to individualize the care of our patients and to halt the progression of neurological diseases. One of the diseases we are studying is Parkinson’s disease. 

We will enroll at least 1,000 Parkinson’s disease patients into the study, and follow them at least annually for several years. To be eligible for the study you need to be new to our Movement Disorders practice within the past year, a resident of Cook or Lake County and willing to provide a blood sample for DNA extraction and storage. We also require your permission to compare your genetic code with the information that we collect in your medical record.

If you wish to participate, the best thing to do is to request an appointment to be seen as a patient in the Department of Neurology at NorthShore. We can then enroll you into the study after your office visit. You can also support the DodoNA project by joining forces with NorthShore’s Auxiliary and by supporting the Hospitals’ Gala

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Hepatitis C – Transmission and Screening

Tuesday, April 02, 2013 10:48 AM comments (0)

hepatitisHepatitis C, a virus which can lead to chronic liver disease, is spread through contact of already infected blood.  Many individuals who are infected with the hepatitis C virus do not experience symptoms and are not aware of having the virus. 

Dhiren Shah, MD, a gastroenterologist at NorthShore University HealthSystem, shares some important information on transmission of hepatitis C and tips on minimizing your risk:

  • Do not come into contact with any non-sterile equipment where blood is involved. If you are getting a tattoo or body piercing, be sure to do so in a licensed facility. Additionally, DO NOT share toothbrushes or razors with anyone who has hepatitis C. Sexual transmission is an uncommon way of transmission; however, the risk increases in patients who have a history of a sexually transmitted disease, multiple sexual partners or men who have sex with men. 
  • Do not participate in the use of illegal intravenous drugs. The most common way that hepatitis C is passed to others is through sharing illegal drugs with used, contaminated needles. If you are a user, you should go to a facility where you can receive clean needles and DO NOT share needles with anyone.

Who should be screened for hepatitis C?

  1. Any person born between 1945 to 1965
  2. Anyone with elevated liver enzymes
  3. Any person who has ever used illegal intravenous drugs and/or any history of snorting cocaine
  4. HIV patients
  5. Children born to women who have hepatitis C
  6. Dialysis patients
  7. Anyone who had an organ transplant before 1992
  8. Anyone who received a blood transfusion before 1992

Is there a vaccine for hepatitis C?  To date, there is no vaccine for hepatitis C; however, you should be screened for hepatitis A and B, and get vaccinated if you have not been previously exposed.  

What other questions do you have about hepatitis C?

 

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Discovering a New Normal: Living with Multiple Sclerosis

Thursday, March 28, 2013 9:45 AM comments (0)

MSThe diagnosis can be hard and may leave you wondering if you’ll ever be able to return to your regular activities. Not everyone with multiple sclerosis (MS) experiences the same symptoms—ranging from fatigue, numbness, loss of balance and coordination, to speech or muscle problems—and most people with this disease do not suffer paralysis or become severely disabled.

According to the National Multiple Sclerosis Society, more than 2.1 million people in the world are affected by MS. Given that in many cases the signs of MS can be difficult to detect, it’s hard to know exactly how many in the United States are impacted by the condition.

We do know that for those who do have MS, the journey through the disease can be very debilitating. Zulma Hernandez-Peraza, MD, neurologist at NorthShore, shares her advice on how to cope with the diagnosis and adapt your life accordingly:

  • Don’t lose hope and stay stress free. As hard as it may be, it’s best to take each day at a time. Try not to dwell on the unknown and uncertainity. Unnecessary stress can aggravate some of your MS symptoms, so be sure to take time to relax and unwind.
  • Get moving. Staying active and engaging in moderate activities and stretching can be very helpful. Be sure to discuss the best workout regimen with your physician.
  • Eat right. It’s important to keep your body healthy, as this will help prevent other illnesses and keep up your strength. You’ll want to eat plenty of fruits, vegetables and foods rich in fiber.
  • Be yourself. Don’t let your condition get you down. As best as you can, try to stay involved and social. Keep up with your hobbies, family and friends. Not only will this keep your support network in place but it will also help keep your spirits up.

Do you know someone living with MS?

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Colorectal Cancer – Early Screening Can Save Lives

Tuesday, March 26, 2013 9:30 AM comments (0)

colon cancerColorectal cancer is one of the leading causes of cancer deaths in both men and women in the United States. However, if everyone over the age of 50 were regularly screened, it might be possible to reduce deaths associated with colorectal cancer by as much as 60 percent.

Many women believe that colorectal cancer is a disease that affects more men than women, so they might not be aware of or believe they need to follow current screening recommendations. National Colorectal Cancer Awareness Month this March is the right time to spread the word that colorectal cancer affects men and women equally and that screening saves lives.

Joel Retsky, MD, Gastroenterologist, shares some important information about colorectal cancer everyone should know, men and women:

  • Your risk increases with age. More than 90% of colorectal cancer cases occur in those who are 50 or older. Everyone over the age of 50 should follow national screening guidelines and continue screening at regular intervals at least until 75 years of age.
  • You should not wait for symptoms. Colorectal cancer rarely causes noticeable symptoms in the early stages. Symptoms of colorectal cancer—bleeding from the rectum, change in bowel habits, noticeable weight loss—often do not appear until the cancer is advanced and more difficult to treat. Most colorectal cancers come from polyps, or abnormal masses, that grow in the inner lining of the large intestine. With screening, polyps can be removed before they even become cancerous.
  • Family history is important. If you have a family history of colorectal cancer, you may need to begin screening earlier, perhaps at 40 or even younger. You will also need to be screened more frequently than currently recommended by the national guidelines. 
  • Personal history is important. Some studies have shown that women who have had ovarian, uterine or breast cancer have a higher-than-average chance of developing colorectal cancer. Crohn’s disease and ulcerative colitis are also risk factors. Talk to your physician about how these risk factors might affect the frequency of your screenings.
  • There are several screening options. There are many tests for colorectal cancer, including fecal occult blood test (FOBT), sigmoidoscopy, colonoscopy, virtual colonoscopy and barium enema. Colonoscopy is the most effective test for colon cancer screening. Talk to your physician about which screening option is best for you.


If you’re 50 or over and have never been screened for colorectal cancer, make National Colorectal Cancer Awareness Month the month you schedule your first appointment.


Have you been screened for colorectal cancer?

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Dieting: What Works, What Doesn’t

Friday, March 22, 2013 9:45 AM comments (0)

There seems to be a diet out these days to appeal to everyone trying to trim down. And, with the barrage of different diets in the media, it's hard to know which diets work and which fall short.

What's important in a safe and healthy approach to weight loss? Before starting a diet be sure that your plan includes the following:

It’s balanced. By excluding food groups, your body is at risk of being deprived of the nutrients it needs to function. For example, the popular Atkins Diet drastically reduces carbohydrates. Carbohydrates are a major source of energy for the cells of the body and also are a main source of your daily fiber needs.

It focuses on portion control. Have you ever seen the MyPlate icon? MyPlate focuses on portion control and balanced meals by dividing a standard dinner plate into four food groups—fruits, vegetables, grains, and protein, with a side of dairy. Portion control is important to avoid overeating and can help reduce caloric intake.

It teaches lifelong, healthy eating habits. Longevity is impossible with impractical fad diets like The Hollywood Cookie Diet and The Grapefruit Diet, which severely restrict calories and lack the nutrition (not to mention the variety) that your taste buds crave. By eating balanced meals and controlling portions, weight loss is achievable and can be maintained throughout your entire life without having to crash diet.

For a healthy, balanced diet with controlled portions always remember to:

  • Load up on fruits and veggies
  • Eat whole grains
  • Choose fat-free and low-fat dairy products
  • Pick lean sources of protein
  • Drink plenty of water throughout the day
  • Make exercise part of your daily routine


Which diet approaches have worked for you?

This article was submitted by Lindsay Sankovsky, Dietetic Intern, and reviewed by Kimberly Hammon, MS, RD, LDN.

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Creating a Healthy Meal Plan with Healthy Food Substitutions [Infographic]

Tuesday, March 19, 2013 4:28 PM comments (0)

Eating healthy and staying healthy is something that millions of Americans strive for every day. Unfortunately, it's not always so easy to eat healthy on a daily basis. With 36% of adults in U.S. considered obese, it's becoming more important for both adults and children to start eating healthier. The experts from NorthShore University HealthSystem have provided some general guidelines for the recommended intake of each food group, suggestions for creating a healthy meal plan every day, as well as some healthy food substitutions.

Click on our infographic for more ideas on creating a healthy meal plan with great healthy food substitutions.

Perfect-plate

 

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Proper Dosage: Medication and Children

Friday, March 15, 2013 10:48 AM comments (0)

Peds-DosageWhen children get sick, the simple solution isn’t always just a pill or spoonful away. Aside from the fact that many medications are not recommended for children, it's also much easier for a child to overdose on medication than an adult.

In most cases, the amount of medicine a child should receive is determined by age, weight and height. When it comes to children and medication, reading labels is very important.

Dirk Killelea, Manager of NorthShore Evanston Hospital Pharmacy, shares the following “must-know” tips for giving children medications:

  • Do not give your child a reduced dosage of a medication meant for adults. Most medicine labels provide a recommended dosage that is based on age. If your child’s age isn’t reflected on this label, then it is not appropriate to give to him or her. Even liquid medication for infants is more concentrated than liquid medication meant for older children. When in doubt, ask your pharmacist or physician.
  • Avoid giving your child over-the-counter cold medicine. Cold medicine should definitely be avoided in children under the age of two, and the same may also be true for older children. These medications can cause more harm than good, and home remedies--humidifier, steam baths and elevation--may prove more effective.
  • Steer clear of some medications. Unless otherwise instructed by a physician, avoid giving children Aspirin, over-the-counter laxatives, herbal or natural supplements and expired medications.
  • Use appropriate measuring devices. Don’t use a household teaspoon or tablespoon to measure doses of liquid medication.  Ask your pharmacy for an oral syringe or graduated measuring spoon. These devices measure the appropriate amount of medication and don’t vary in size like household silverware.

The best remedy for most kids is rest and hydration. If your child has a fever or cold, keep activities to a minimum and make sure they aren't too strenuous. Coloring, drawing or reading stories is a great way to spend time until he or she feels better. If your child is experiencing loose stools or diarrhea, make sure to provide plenty of water or electrolyte-containing drinks like Pedialyte to prevent dehydration.   

How do you manage your kids’ illnesses? What remedies work best for you?

 

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Don’t Sleep through the Signs: Recognizing Sleep Disorders in Children

Friday, March 08, 2013 11:00 AM comments (0)

pediatric-sleep-disordersA good night’s sleep can be the difference between night and day with children. Frequent lack of sleep can greatly impact a child’s physical, mental and social well-being. It's also hard on the entire family.

It's recommended that children between the ages of six and twelve get 10-11 hours of sleep each night. This allows them to be better rested for school, and to further their growth and development. The challenge with childhood sleep disorders is that they aren’t always easy to recognize. In fact, since the symptoms are so similar to other conditions (such as ADD and ADHD), sleep disorders often go misdiagnosed.

Mari Viola-Saltzman, DO, Sleep Medicine specialist, who sees both pediatric and adult patients, identifies some of the secondary effects childhood sleep disorders may have:

  • Lack of focus in school work. This may lead to poor performance, impaired learning/memory and an inability to concentrate on academic tasks.
  • Short temper and moodiness. Children may not “act like themselves” if they are not getting enough sleep. This can often be misidentified as a behavioral problem or depression.
  • Excessive daytime sleepiness. Children with sleeping disorders often have a more difficult time sleeping through the night, which can lead to drowsiness during the day and also slower reaction times to daytime activities.
  • Appetite and metabolic changes. Studies have indicated that sleep disorders in children may cause obesity, likely due to sleep deprivation affecting the part of the brain called the hypothalamus that regulates hormonal changes, metabolism, hunger and energy expenditures.

How many hours of sleep do your children get each night? Do they have a nightly routine?

 

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Go Green: Your Colon (and Body) Will Thank You

Wednesday, March 06, 2013 1:52 PM comments (0)


ColonCancerAs the old adage goes, “You are what you eat.” When it comes to your health, this saying is true — eating healthier foods will make you feel better, have more energy and help you maintain your weight.

Many of the foods we eat—as tasty as they are—aren’t always the easiest for our system to digest. This is true for highly processed foods, and foods high in sodium, sugar, saturated fats and cholesterol. It’s not to say that, in moderation, we can’t enjoy some of these foods, but research has proven that a diet high in fresh food, especially green vegetables, may help prevent colon cancer.

Considering colon cancer is one of the most common cancers in men and women, it’s nice to know that a balanced, healthy diet may be the first step toward disease prevention. Yolandra Johnson, MD, Gastroenterologist at NorthShore, provides easy ways to work more greens and other vegetables into your daily diet:

  • Add chopped vegetables to your pasta sauces. Add chopped or shredded zucchini, carrot, peas, spinach or eggplant into either homemade or store-bought sauces. You’ll be adding extra flavor and more nutrients.
  • Blend it up. Smoothies don’t have to be made with only fruit. Consider mixing a more savory blend by adding in vegetables. Spinach is a great addition to fruit smoothies.
  • Eat a side salad with lunch or dinner. A salad is a great way to get an extra serving of vegetables, plus it will help fill you up before the main course. That’s good for your diet and for your waistline!
  • Choose ready-made options if you’re short on time. Canned and frozen vegetables can be just as nutritious as fresh ones. If you have limited time to prepare meals, go for prepared salads,  pre-chopped veggies, canned goods or frozen items. Remember, there’s no wrong way to add vegetables to your diet.
  • Snack on fresh vegetables instead of chips and other junk foods. Cucumbers, peapods, carrots, peppers and celery all make great snack items. Prepare small bags of these veggies for the week so they’re easy to grab and go.

What are some of your favorite dishes that include vegetables? What are some of your tricks for including veggies in your diet?

 

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Rediscovering your Happiness – Managing Depression

Thursday, February 28, 2013 3:26 PM comments (0)

Managing-DepressionIt’s one thing to occasionally feel down, unenergetic and tired out, especially given the busy lives so many of us lead. However, consistently experiencing feelings of sadness, exhaustion and anxiety to a point where it affects the rest of your life can be cause for concern.

Depression is a very common mental illness and impacts people in various ways. It is estimated that one in ten adults suffers from depression at some point during their lifetime.

Frederick Miller, MD, PhD, Psychiatrist at NorthShore, recognizes that living with depression can be a challenge. He offers the following tips for managing and coping with depression:

  • Don’t be afraid to seek help.  It may be hard to admit feelings of depression to others, but you shouldn’t have to go through it alone. Family members and friends may be able to help brighten your spirits, and encourage you to stay active and positive. It can also be helpful to talk with your physician, therapist or a support group for additional assistance.
  • Stay active. Exercise can help relieve stress and provide a positive boost to your emotional and physical health.
  • Keep a positive mental attitude. It's not just our experiences that influence our mood but how we interpret them. Are you prone to "personalizing," that is, taking blame for bad things that happen? If something runs amok, do you "catastrophize" and conclude that everything will always be doomed? You can actually train yourself to be more positive. Try journaling. Pick one event that generated negative feelings and force yourself to write down a more positive or at least balanced view of the situation. Over time, thinking more positively will become habit.
  • Seek out positive relationships. It may be hard to "reach out and touch someone" when you're feeling down but it can make a major difference. Call an old friend or send an email to a relative.
  • Find something meaningful to do. Helping others will make you feel good about yourself.
  • Consider getting a pet.
  • Plan a trip or to commit to a new hobby. Being goal-oriented helps to keep your spirits up.
  • Practice being mindful. Often, folks who are depressed spend too much time "in their heads." Take a walk and just "be." See how much you can notice using all of your senses: sight, sound, touch and taste.
  • Play some inspiring music.

What makes you happy? How to you manage feelings of sadness and/or depression?

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