To : List Members From: Joe Imperiale [log in to unmask] I recently read an article on the recent discovery of a PD gene. I wrote to AOL and requested their permission to distribute the article out on t he PD information exchange network. The permission to distribute and the article follows: Subj: Re:FINDING AOL SERVICES Date: 95-04-11 18:26:45 EDT From: [log in to unmask] From: [log in to unmask] (Technical Support) To: [log in to unmask] Dear HJPJA, I am writing on behalf of America Online to respond to your recent E-mail. You may upload a file by selecting the Software Center icon on the previous screen (or use the keyword SOFTWARE from anywhere on the service), and then selecting the Uploading Center. In addition to the information presented here, each upload library contains detailed instructions on uploading, as well as guidelines for preparing files for uploading. You are reimbursed for any time spent uploading files at your normal connect rate. Thus, the time you spend actually uploading the file is free. GENERAL CONSIDERATIONS Files that are uploaded to this service should contain all the files that came with the program when you received it. We prefer to have the documentation and executable files and any other support files together in one file (compressed) rather that separate files that require several downloads for each part. We only make available files that are in the public domain or are distributed as shareware. Do NOT upload any files from magazines, commercially distributed products, or demos. We recommend that you use PKZIP version 1.1 or greater to compress separate files into a single compressed file. This utility is available from our "Helpful Utilities" library, keyword SOFTWARE. If you already have a compressed file in some other format and are not able to convert it to a ZIP file, you can upload it. However, we may convert it to ZIP format before making it available. We will also convert self-extracting files to ZIP format. This is done to make these files easier for those that are not familiar with them any different types of compressed files to use them. Our library staff will inform you of the status of your upload and inform you when it has been made available to download. We thank you and appreciate your interest in sharing your favorite files with other online members. UPLOADING THE FILE "Uploading" a file to the Software Libraries means simply to send a disk file from your computer to ours. The process itself requires a few simple steps. Uploading the file is FREE as any time that is used while the file is being uploaded will be credited back to your monthly bill. By the way, I noticed that you are currently using an older version of our software. We have a new version out that is available free of charge, and overcomes many of the limitation of the earlier versions. You can download it free of charge by using the keyword: UPGRADE, or you can call our Sales Department (800-827-6364) and order one. Thank you for using America Online. We hope you enjoy our service. Adam Foster Technical Support Representative If you wish to reply, please use the forward button (AFosterEM). **Attention Windows and MAC users. Try America Online's new high speed network, supporting speeds from 14.4 to 28.8, all at no extra charge. Use Keyword AOLnet for additional information. Under no circumstances will any employee of America Online ask you for your password. For the security of your account, you should never reveal your password to anyone. Should anyone ever ask you for your password, please feel free to report the incident immediately, by using Keyword TOS. -------------------- Original Letter: Hi, my name is Joe Imperiale. I belong to the Parkinson Disease Information Exchange Network. I recently read an article on the discovery of a Parkinsons Disease gene on AOL. I want to put it out on the exchange but I thought I should ask permission first, and I thought this would be a good place to start. I am looking forward to hearing from you soon. Please let me know if you want me to transmit the entire text to you so you can read it if you need to. Best Regards Joseph M. Imperiale [log in to unmask] -------------------- ----------------------- Headers -------------------------------- From [log in to unmask] Tue Apr 11 18:26:27 1995 Received: from sleepy.tech.aol.com by mail05.mail.aol.com with SMTP (1.37.109.11/16.2) id AA006449187; Tue, 11 Apr 1995 18:26:27 -0400 Return-Path: <[log in to unmask]> Received: by sleepy.tech.aol.com (1.38.193.4/16.2) id AA16932; Tue, 11 Apr 1995 18:20:11 -0400 Date: Tue, 11 Apr 1995 18:20:11 -0400 Message-Id: <[log in to unmask]> From: Technical Support <[log in to unmask]> To: [log in to unmask] Subject: Re:FINDING AOL SERVICES X-Mailer: VMail 2.3 *********************************************************************** The article on the discovery of a PD gene follows: PARKINSON'S DISEASE GENE DISCOVERED ST.LOUIS- The discovery of a gene associated with a rare form of Parkinson's disease provides researchers with a long sought piece to the puzzling pathogenesis of this disease. A team of researchers at Washington University School of Medicine in St. Louis have characterized a rare disease, aceruloplasminemia, that causes a rare form of Parkinson's. Aceruloplasminemia is caused by a mutation in the ceruloplasmin gene, which is involved in iron transport. Patients with this gene mutation do not make ceruloplasmin, a protein that removes iron from cells. The iron then accumulates in cells in the brain's basal ganglia region and causes neurological problems. These include the tremors and gait abnormalities associated with Parkinson's disease, according to Jonathan D. Gitlin, M.D., associate professor of pediatrics, Washington University School of Medicine. Neurologists have long hypothesized that Parkinson's disease results from a combination of genetic and environmental factors. The current discovery is important because it is the first time a genetic cause of Parkinson's disease has been identified. "This is a clearly defined piece of the puzzle and there haven't been many of those in this particular disease. I think that's what's most exciting," Gitlin said. Gitlin and colleagues discovered the genetic form of Parkinson's during a study of a Japanese family that had Parkinson symptoms and low levels of ceruloplasmin. Autopsy and biopsy analyses of brain and liver tissue of a different Japanese patient led to the conclusion that this abnormality was caused by increased iron deposition. Gitlin's lab then obtained DNA from another Japanese family and identified a mutation on the ceruloplasmin gene located on chromosome 3. All of the patients with the mutation had basal ganglion damage characteristic of Parkinson's disease This finding gives researchers important new information which could lead to innovations in the diagnosis and treatment of Parkinson's disease. Genetic screening based on these findings may also help doctors diagnose patients with neurologic disorders for which no cause is known. Ultimately, the identification of this mutation could help prevent the onset of Parkinson's disease. "Hopefully, if you find out early, it might be the kind of disease that if there was some kind of therapy, you could prevent it," he said. Dr. Gitlin believes this form of Parkinson's disease has been underdiagnosed in the past. He recommends that patients with undiagnosed movement disorders ask their doctors to look for aceruloplasminemia. Scientists have known for some time what neurotransmitter is depleted in Parkinson's disease patients (dopamine) and where it is depleted (the basal ganglia). What is not known is what initiates and maintains this neurodegenerative process. Some studies have hinted at familial linkages while others have implicated environmental factors ranging from drinking water and cycad nuts to toxic drugs and poor education. Earlier this year Swedish researchers reported data from animal studies supporting the hypothesis that Parkinson's is caused by a lack of sufficient dopaminotrophic support. Researchers at the Karolinska institute in Stockholm conducted a series of experiments in mice using a cloned version of a natural protein associated with nerve cell growth called glial cell line-derived neurotrophic factor (GDNF). The researchers concluded that intracerebral GDNF administration exerts both protective and reparative effects on the nigrostriatal dopamine system, which may have implications for the development of new treatment strategies for Parkinson's disease. Dr. Gitlin's research appears in the March 28 issue of the Proceedings of the National Academy of Sciences. The Swedish data appeared in Nature, Olson et al., v.373, 1/26/95. BACKGROUND Nearly one million people in the U.S. have Parkinson's disease. This is a mysterious disease with no known cause or cure. The cause of Parkinson's disease is currently thought to be a combination of environmental and genetic factors. The symptoms of Parkinson's disease were first described by British physician Dr. James Parkinson in 1812. The first symptom is often an involuntary tremor. As the disease progresses, the muscles become stiff and the face loses all expression. Patients also develop difficulty walking and standing. The first treatment breakthrough came with levadopa. The drug essentially replaces the lost dopamine in the brain. However, large doses are required, resulting in undesirable side effects, such as nausea, heart problems & dementia. The subsequent development of carbidopa, which is given in conjunction with levadopa, allows a smaller dose of levadopa to be used, resulting in fewer side effects. Many patients respond well at first to this combination therapy, but after a couple years of treatment the effects may begin to wear off. At the same time, prolonged use of levadopa can have serious side effects including involuntary movements of the limbs and psychological disturbances. A new treatment called seligiline has recently become available which has a completely different mechanism of action from levadopa. The drug is potent inhibitor of an enzyme called 'monoamine oxidase B' which breaks down dopamine. This means more dopamine can be preserved in the brain. The drug appears to have a neuroprotective effect and may delay the onset of Parkinson's symptoms. *** Transmitted: 95-03-29 19:26:06 EST Best Regards To All Joseph M. Imperiale [log in to unmask]