Project Description

Cerebellar Degeneration Fast Facts

Cerebellar degeneration is the progressive loss of nerve cells in the cerebellum, the part of the brain responsible for balance and muscle coordination.

Symptoms of cerebellar degeneration may include an awkward gait, balance difficulties, uncontrolled muscle movements, and slurred speech.

Cerebellar degeneration is caused by many different underlying conditions, including multiple sclerosis, stroke, and brain inflammation.

Some forms of cerebellar degeneration are inherited.

Chronic alcohol abuse can cause cerebellar degeneration.

Some types of cancer can cause cerebellar degeneration.

Chronic alcohol abuse can cause cerebellar degeneration.

What is Cerebellar Degeneration?

Cerebellar degeneration is a disorder that affects the nerve cells in the cerebellum, the part of the brain that controls balance and muscle coordination. A wide variety of underlying conditions can cause the cerebellum cells to malfunction or die, resulting in symptoms that affect movement, speech, and other physical functions.

Symptoms of Cerebellar Degeneration

The cerebellum has three different parts that control various functions. The archicerebellum helps with balance, and it coordinates movements of the eyes, head, and neck. The midline vermis helps to coordinate movement of the torso and the legs. The lateral hemispheres control quick, delicate movements, mainly of the arms. The cerebellar degeneration symptoms vary depending on the parts of the cerebellum affected and the extent of the damage.

Common symptoms include:

  • Slow, unsteady walking gait
  • Wide-legged stance
  • Back-and-forth movements of the torso
  • Slow, jerking arm and leg movements
  • Repetitive, uncontrolled eye movements
  • Slow, slurred speech

What Causes Cerebellar Degneration?

Cerebellar degeneration can occur as the result of many different neurological disorders and underlying conditions. Some causes include:

  • Stroke. A disruption of blood flow to the brain can cause damage to brain tissue, including the cerebellum.
  • Cerebellar cortical atrophy. This and other degenerative disorders that cause progressive loss of brain tissue may affect the cerebellum.
  • Spinocerebellar ataxia. This is one of several inherited neurological disorders that can result in loss of function in the cerebellum.
  • Transmissible spongiform encephalopathies. These diseases include Mad Cow Disease and Creutzfeldt-Jakob disease. They cause brain inflammation and tissue loss that may impair the function of the cerebellum.
  • Multiple sclerosis. This disorder causes the protective sheath that surrounds nerve cells to be damaged. The condition may affect nerve cells in the cerebellum.
  • Alcoholism. Chronic abuse of alcohol can cause degeneration of nerve cells in the cerebellum.
  • Cancer. Some cancers (breast cancer, ovarian cancer, lung cancer, and others) may provoke a response that causes the body’s immune system to attack its own cells. When the immune system attacks nerve cells in the cerebellum, cerebellar degeneration results.
  • Celiac disease
  • Heatstroke
  • Head injuries
  • Hypothyroidism
  • Vitamin E deficiency
  • Exposure to toxins. Some toxic chemicals such as carbon monoxide, heavy metals, lithium, and some solvents may cause cerebellar degeneration.
  • Medications. Exposure to excessive levels of certain drugs may affect the cerebellum. Potentially problematic drugs include phenobarbital, benzodiazepines, antiseizure drugs, and some chemotherapies.

Is Cerebellar Degeneration Hereditary?

Some conditions that cause cerebellar degeneration are inherited. Ataxias are progressive, degenerative neurological disorders that cause symptoms related to movement because they attack the cerebellum. Several types of ataxia are inherited and run in families. Inherited ataxias include:

  • Friedreich ataxia
  • Episodic ataxia (EA)
  • Ataxia-telangiectasia
  • Congenital cerebellar ataxia
  • Abetalipoproteinemia
  • Ataxia with isolated vitamin E deficiency
  • Cerebrotendinous xanthomatosis
  • Spinocerebellar ataxias

Some disorders that cause cerebellar degeneration, such as multiple sclerosis and celiac disease, may have an inherited component, but they are likely caused by a combination of genetics and environmental factors.

Cerebellar degeneration that results from a non-inherited cause (alcoholism, Mad Cow Disease, cancer, etc.) is referred to as acquired cerebellar degeneration.

How Is Cerebellar Degeneration Detected?

The early signs of cerebellar degeneration involve problems with movement and, sometimes, speech. You should consult a doctor if you or a loved one experiences unusual, uncontrollable movement symptoms, including:

  • Persistent loss of balance
  • Problems walking or development of an unusual gait
  • Loss of muscle coordination in the extremities
  • Slurred speech
  • Difficulty swallowing

How Is Cerebellar Degeneration Diagnosed?

When a patient presents cerebellar degeneration symptoms, a doctor typically will take a medical history from the patient and conduct physical and neurological exams. If the results of these steps continue to suggest that cerebellar degeneration (or one of its underlying causes) may be present, an imaging exam may be conducted to look for damage to the cerebellum. Magnetic resonance imaging (MRI) or computerized tomography (CT) are the technologies most often used for this exam.

If the patient’s family history contains inherited disorders that cause cerebellar degeneration, genetic testing might be recommended. These tests can only detect the presence of genes known to cause certain disorders, such as spinocerebellar ataxia. They cannot detect acquired causes or all inherited causes.

PLEASE CONSULT A PHYSICIAN FOR MORE INFORMATION.

How Is Cerebellar Degeneration Treated?

There is no cure for the inherited forms of cerebellar degeneration. Treatments for inherited types of the disorder focus on managing and improving symptoms. Some medications may improve coordination problems, physical therapy may improve lost muscle strength, and speech therapy may improve speech difficulties.

Treatment for acquired types of cerebellar degeneration focuses on treating the underlying condition that caused damage to the cerebellum. Treatment approaches depend on the underlying cause and may include:

  • Alcohol abuse treatment
  • Removal of exposure to toxins
  • Changes to prescribed medications
  • Nutritional support
  • Cancer treatment

How Does Cerebellar Degeneration Progress?

Some types of cerebellar degeneration are caused by a discrete event such as a stroke or head injury, and the damage to the cerebellum may not be progressive. However, many cases of degeneration will get worse over time unless the underlying cause is successfully treated.

In some cases, the symptoms of cerebellar degeneration may improve with successful treatment of the underlying disorder. The damage caused by cancer-induced autoimmune reactions may be reversible if the cancer responds to treatment. Similarly, degeneration caused by alcoholism or nutritional deficiencies may sometimes be reversed if those causes are removed.

Complications of Cerebellar Degeneration

The potential long-term (and sometimes life-threatening) effects of the disorder vary depending on the underlying cause. Possible complications include:

  • Muscle rigidity
  • Breathing difficulties
  • Chronic dizziness
  • Muscle tremors or spasms
  • Injuries from falls
  • Chronic pain
  • Chronic fatigue
  • Loss of ability to walk
  • Choking or difficulty swallowing
  • Blood clots
  • Bedsores
  • Incontinence
  • Sexual dysfunction

How Is Cerebellar Degeneration Prevented?

There is no known way to prevent the inherited causes of cerebellar degeneration. Many other causes of degeneration, such as multiple sclerosis, celiac disease, stroke, or cancer, have complex causes that make them difficult to prevent. Some acquired causes of cerebellar degeneration, however, are preventable or treatable before they cause degeneration.

Potentially preventable causes include:

  • Alcoholism
  • Nutritional deficiencies
  • Hypothyroidism
  • Toxin exposure
  • Medication reactions
  • Heatstroke

Cerebellar Degeneration Caregiver Tips

The symptoms of cerebellar degeneration can be frightening and disorienting for caregivers as well as for sufferers. If you’re caring for a loved one who’s coping with a cerebellar disorder, keep these tips in mind:

  • Educate yourself. Cerebellar degeneration encompasses a complex and varied group of disorders. Learn as much as you can about your loved one’s specific condition so that you can more effectively cope with both the cerebellar symptoms and their underlying causes. When you know more, you’ll know better what to expect, and you’ll be able to be a better advocate for your loved one’s treatment.
  • Remember to be safe. Cerebellar disorders cause symptoms that put your loved one at risk of injuries from falls. Do what you can to create a safe environment, including removing trip hazards and installing assistive devices such as handrails and grab bars.
  • Take care of yourself, too. It’s taxing to care for someone with any chronic illness, and cerebellar degeneration is no exception. Don’t blame yourself for feeling frustrated or exhausted, and don’t hesitate to take time away from your loved one whenever you can.

Cerebellar Degeneration Brain Science

The common characteristic among all different types of cerebellar degeneration is that the cerebellum’s nerve cells cease to function correctly or die. Various causes of degeneration, however, affect the cerebellum in different ways.

  • Inherited ataxias. In these disorders, abnormal genetic variations (mutations) cause brain chemistry changes that damage or kill nerve cells in the cerebellum. Different types of ataxia arise from other genetic causes and different biochemical processes. Research is ongoing to understand the various factors better and to pursue effective treatments.
  • Multiple sclerosis. This disorder causes the breakdown of a protective layer called a myelin sheath that surrounds nerve cells. As this sheath deteriorates, nerve cells are increasingly unable to transmit electrical signals from one cell to another. The result is the interruption of nerve impulses between the brain and the rest of the body.
  • Transmissible spongiform encephalopathies (TSEs). These diseases, which include Mad Cow Disease, occur when foreign proteins called prions cause inflammation in the brain. The inflammation, in turn, causes cell damage and disrupts normal brain function.
  • Nutritional deficiencies and alcoholism. Both dietary deficiencies and chronic alcohol abuse can interfere with the normal processing of thiamine, also known as vitamin B1. Thiamin plays a vital role in nerve cell function, and its deficiency can cause dysfunction of the cerebellum.
  • Paraneoplastic disorders. These disorders occur when the body’s reaction to cancer causes the immune system to attack healthy cells. These disorders can affect the skin, blood, joints, or endocrine glands, but they often affect the brain, spinal cord, and other nervous system components. When they affect the cerebellum, movement-related symptoms often result.

Cerebellar Degeneration Research

Title: Ataxia, Imaging, and Exercise Disease Using MRI and Gait Analysis

Stage: Recruiting

Contact: Scott Barbuto, MD, PhD

Columbia University

New York, NY 

Individuals with degenerative cerebellar disease (DCD) exhibit gradual loss of coordination, resulting in impaired balance, gait deviations, and severe, progressive disability. With no available disease-modifying medications, balance training is the primary treatment option to improve motor skills and functional performance. There is no evidence, however, that balance training impacts DCD at the tissue level.

Aerobic training, on the other hand, may modify DCD progression, as evident from animal data. Compared to sedentary controls, aerobically trained DCD rats have enhanced lifespan, motor function, and cerebellar Purkinje cell survival. Numerous animal studies also document that aerobic training has a direct, favorable effect on the brain that includes production of neurotrophic hormones, enhancement of neuroplasticity mechanisms, and protection from neurotoxins.

The effects of aerobic training in humans with DCD are relatively unknown, despite these encouraging animal data. A single study to date has evaluated the benefits of aerobic exercise on DCD in humans, and this was a secondary outcome of the study. Although participants performed limited aerobic training during the study, modest functional benefits were still detected.

This project’s main objective will be to compare the benefits of aerobic versus balance training in DCD. We hypothesize that both aerobic and balance training will improve function in DCD subjects but that the mechanisms in which these improvements occur differ. 1) Balance training improves DCD individual’s ability to compensate for their activity limitations but does not impact disease progression. 2) Aerobic exercise improves balance and gait in DCD persons by affecting brain processes and slowing cerebellar atrophy.

 

Title: Natural History of Spinocerebellar Ataxia Type 7 (SCA7)

Stage: Recruiting

Principal investigator: Laryssa A Huryn, MD

National Institutes of Health Clinical Center

Bethesda, MD

Objective: Spinocerebellar Ataxia, type 7 (SCA7), is an autosomal dominant neurodegenerative disease characterized by progressive ataxia, retinal degeneration, and marked genetic anticipation. The objectives of this study are to 1) establish a cohort of participants with molecularly-confirmed SCA7 in anticipation of future clinical trials, 2) create a repository of plasma, DNA, and skin fibroblast samples from the accrued cohort of SCA7 participants, 3) formulate clinical outcome measures for future studies, and 4) acquire and perform preliminary analyses of data that may advance our understanding of the progression of retinal and neurodegeneration associated with molecularly-confirmed SCA7.

Study Population: Twenty-five (25) participants, ages 12 and above, with molecularly-confirmed SCA7 will be accrued for this study.

Design: In this natural history study, participants will be followed for at least five years. Because three years may be required to enroll 25 participants, this study will last up to eight years. All participants will undergo a standardized medical/ophthalmic history and a complete baseline eye examination, including non-invasive electrophysiology (e.g., electroretinography), psychophysiology (e.g., microperimetry, static perimetry), and diagnostic imaging examinations (e.g., optical coherence tomography). In addition, participants will undergo a detailed neurology exam, neuroimaging (MRI, including special sequences), and consult with speech pathology and/or other rehabilitation services, audiology, and neuropsychology.

The participants will undergo two separate detailed eye examinations and a single neurology/neuroimaging examination within a one to two-week period to establish a baseline. Afterward, they will return to the NEI clinic annually until the last-enrolled participant reaches five years of follow-up. Therefore, this study will require a minimum of five study visits. Follow-up visits will consist of a single detailed eye exam and a single detailed neurology/neuroimaging exam, and follow-up with appropriate consultants. Participants may be seen at more frequent intervals at the investigators’ discretion, depending on the clinical and research situation. Participants will be required to submit a blood sample for analysis, and they will have the option to provide a skin biopsy to facilitate research at a cellular level.

Outcome Measures: This study’s primary outcome is a determination of the amplitude and time of photopic and scotopic responses on electroretinogram. Secondary outcomes include changes in visual acuity, microperimetry, peripheral visual field, color vision, macular thickness, and neurologic outcome variables. Exploratory outcomes for this study include: 1) the formulation of clinical outcome measures for future studies and 2) the acquisition and preliminary analysis of data that may advance our understanding of the progression of retinal and neurodegeneration associated with molecularly-confirmed SCA7. Cells from skin biopsies may be grown in the laboratory to understand better SCA7, including evaluating potential treatments.

 

Title: Genetic Characterization of Movement Disorders and Dementias

Stage: Recruiting

Principal Investigator:  Bryan J Traynor, MD  

National Institute on Aging (NIA)

Baltimore, MD

Objective: The objective of this study is to ascertain individuals with a clinical diagnosis of a movement disorder or dementia, their affected and unaffected family members, and unrelated, healthy individuals (to provide control samples); to characterize their phenotypes, and to identify and further characterize genetic contributions to etiology by collecting blood samples, and/or saliva samples on these individuals for DNA and induced Pluripotent stem (iPs) cell line preparation.

Study population: Up to 10,000 persons diagnosed with a movement disorder or dementia, 1,000 asymptomatic persons who are family members/related to individuals with a diagnosis of movement disorder or dementia, and 1,000 unrelated, healthy control individuals.

Design: This study usually requires one outpatient visit to the NIH Clinical Center. Participant visits may also take place when they are an inpatient at the NIH Clinical Center. Those who cannot travel to NIH may have study procedures performed at a site near their

home, such as hospital facilities, private physician offices, nursing homes, assisted living facilities, local community centers, or participant homes. Participants will undergo medical record review, a physical examination, and biospecimen collection, including blood draw and/or saliva collection at the enrollment visit.

Follow-up visits may be scheduled to collect additional phenotype information or biospecimens.

Outcome measures: The primary outcome measure of this study is the identification of pathogenic genetic variants that are causative for the movement disorder or dementia with which the patient has been diagnosed. These disease-causing variants are often inherited.

This study’s secondary outcome is the identification of genetic variants that alter susceptibility/risk for the movement disorder or dementia that the patient has been diagnosed with. These genetic risk factors are associated with the disease that can be sporadic.

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