$Unique_ID{BRK03632} $Pretitle{} $Title{Creutzfeldt-Jakob Disease} $Subject{Creutzfeldt-Jakob Disease Spastic Pseudosclerosis Jakob-Creutzfeldt disease Corticostriatal-spinal degeneration CJD Subacute Spongiform Encephalopathy Alzheimer's Disease} $Volume{} $Log{} Copyright (C) 1984, 1985, 1987, 1988, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 33: Creutzfeldt-Jakob Disease ** IMPORTANT ** It and is possible that the main title of the article (Creutzfeldt-Jakob Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Spastic Pseudosclerosis Jakob-Creutzfeldt disease Corticostriatal-spinal degeneration CJD Subacute Spongiform Encephalopathy Information on the following diseases can be found in the Related Disorders section of this report: Alzheimer's Disease General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Creutzfeldt-Jakob Disease is a rare disorder that is characterized by the progressive degeneration of the central nervous system (spongiform encephalopathy) and by neuromuscular disturbances. This disease is thought to be transmissible in the form of an infectious particle known as a prion. Creutzfeldt-Jakob Disease generally occurs in middle life. Symptoms The early stages of Creutzfeldt-Jakob Disease are characterized by memory failures and behavioral changes. The patient may have difficulty in concentrating, a lack of coordination and visual disturbances. Sudden involuntary spasms of muscles (myoclonus) may occur. The toes may contract in response to the irritation of the bottom of the foot (extensor plantar reflexes) and there may be increased reflex reactions (hyperreflexia). Creutzfeldt-Jakob Disease progresses to pronounced mental deterioration, weakness on one side of the body (hemiparesis) and sensory disturbances. There is a progressive wasting away of muscles (muscular atrophy). Patients generally cease speaking (mutism) and movement becomes very slow or absent (akinesia). Seizures and semi-coma may ensue. Death generally occurs within a year, and may take place after only a few months. This disease can produce characteristic changes in the electroence (EEG) which is a test for brain wave activity. Computerized tomography (CT scan) can demonstrate a deterioration of brain tissue. Causes Creutzfeldt-Jakob Disease is believed to be caused by a small infectious particle called a prion (protein infectious agent). The mode of transmission is not completely understood. About 10 percent of reported cases run in families. It has been suggested that prolonged therapy during the 1970's with pituitary-derived human growth hormone (HGH) may have been a risk factor for the development of Creutzfeldt-Jakob Disease. Further studies are required to demonstrate this relationship and to attempt to define the duration of HGH therapy that increased the risk of this disease. Today human growth hormone is manufactured through biotechnology engineering (r-hGH) so transmission of the Creutzfeldt-Jakob prion is no longer a risk with these recombinant products. Affected Population Creutzfeldt-Jakob Disease affects both males and females. The disease occurs most frequently around the age of 55 to 59. Incidence of the disease is very low in the general population, but the exact prevalence is unknown. Related Disorders Symptoms of the following disorder can be similar to those of Creutzfeldt- Jakob Disease. Comparison may be useful for a differential diagnosis: Alzheimer's Disease is a common progressive condition of the brain affecting memory, thought and language. The degenerative changes lead to the formation of plaques or patches within the brain and the loss of cholinergic neurotransmitter function. The early behavioral changes may be barely noticeable, but as the disease progresses memory losses increase and there are personality, mood and behavioral changes. There may also be disturbances of judgment, concentration and speech along with confusion and restlessness. (For more information on this disorder, choose "Alzheimer's Disease" as your search term in the Rare Disease Database). Therapies: Standard The treatment of Creutzfeldt-Jakob Disease is symptomatic and supportive. Patients should be guarded against infection and given as much support as possible. Therapies: Investigational Possible drug treatments for Creutzfeldt-Jakob Disease are now being evaluated. The testing of these drugs is being conducted on rodents and primates (other than human) that have been induced with this disease. Current clinical studies include tests of anti-viral drugs such as amantadine, a compound useful in the treatment of Parkinsonism. Some patients taking these drugs have experienced brief periods of improvement, but prolonged treatment has not shown lasting benefit. Scientists are conducting biochemical analyses of brain tissue, blood, and serum from patients with Creutzfeldt-Jakob disease. To help with this research, scientists are seeking biopsy and autopsy tissue, blood and cerebrospinal fluid from patients with Creutzfeldt-Jakob and related diseases. The following investigators have expressed an interest in receiving such material: Dr. Stephen DeArmond/Dr. Stanley Prusiner Department of Pathology/Neuropathology Unit HSW 430 University of California San Francisco, CA 94143 (415) 476-5236 Dr. Clarence J. Gibbs/Dr. D. Carleton Gajdusek NIH/National Institute of Neurological Disorders & Stroke Laboratory of Central Nervous System Studies, Building 36, Room 4A-15 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4821 Dr. Elias Manuelidis Yale University School of Medicine, Section of Neuropathology 333 Cedar Street New Haven, CT 06510 (203) 785-4442 A study of early onset dementia occurring as a result of Creutzfeldt- Jakob Disease is being conducted by the National Institute of Mental Health (NIMH) and the Neuropsychiatric Research Hospital. This study includes a thorough neuropsychological evaluation, advanced brain imaging and evaluation using newly developed biochemical assay techniques. Participants in this study must be under forty-five years of age and not require special medical care. Physicians with patients who are interested should contact: Denise Juliano, MSW Coordinator of Admissions Neuropsychiatric Research Hospital 2700 Martin Luther King Jr. Ave., SE Washington, DC 20032 (202) 373-6100 An epidemiologic (affected population) study of Creutzfeldt-Jakob Disease is being conducted at Loma Linda University under the supervision of Carey G. Smoak. The project is funded by the National Institutes of Health. Interested persons may call or write: Creutzfeldt-Jakob Disease Study Department of Neurology, Rm. 1580 School of Medicine Loma Linda University Loma Linda, CA 92350 (714) 799-2146 This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Creutzfeldt-Jakob Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Alzheimer's Disease and Related Disorders Association National Headquarters 70 E. Lake Street Chicago, Illinois 60601 (312) 853-3060 (708) 330-0230 (800) 621-0379 (In Illinois) (800) 572-6037 (out of state) NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For more information about long-term care facilities: National Hospice Organization 1901 N. Fort Myer Drive, Suite 902 Arlington, VA 22209 (703) 243-5900 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 281-282, 927-929. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2191-2193. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 609-611. HUMAN GROWTH HORMONE AND CREUTZFELDT-JAKOB DISEASE, S. Zekauskas; J Okla State Med Assoc (Sept 1990; 83(9)): Pp. 447-448. CREUTZFELDT-JAKOB DISEASE IN PITUITARY GROWTH HORMONE RECIPIENTS IN THE UNITED STATES, R. Thomson; JAMA (Feb. 1991; 20(265)): Pp. 880-884. MOLECULAR BIOLOGY OF PRION DISEASES, S.B. Prusiner; Science (June 1991; 252(5012)): Pp. 1515-1522.